KEGG DISEASE: Autosomal dominant intellectual developmental disorder

DISEASE: Autosomal dominant intellectual developmental disorder

Entry

H00773                      Disease

Name

Autosomal dominant intellectual developmental disorder;
Autosomal dominant mental retardation

Subgroup

Helsmoortel-van der Aa syndrome [DS:H02365]
PP2A-related neurodevelopmental disorder [DS:H02632]

Description

Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. Most causative genes identified so far are either located on the X chromosome or are associated with an autosomal recessive mode of inheritance. Recently, a lot of genes associated with autosomal dominant mental retardation have been identified.

Category

Mental and behavioural disorder

Brite

Human diseases in ICD-11 classification [BR:br08403]
06 Mental, behavioural or neurodevelopmental disorders
  Neurodevelopmental disorders
   6A00  Disorders of intellectual development
    H00773  Autosomal dominant intellectual developmental disorder
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06530  PI3K signaling
   H00773  Autosomal dominant intellectual developmental disorder
  nt06528  Calcium signaling
   H00773  Autosomal dominant intellectual developmental disorder
Cellular process
  nt06523  Epigenetic regulation by Polycomb complexes
   H00773  Autosomal dominant intellectual developmental disorder
  nt06512  Chromosome cohesion and segregation
   H00773  Autosomal dominant intellectual developmental disorder
  nt06515  Regulation of kinetochore-microtubule interactions
   H00773  Autosomal dominant intellectual developmental disorder

Pathway

hsa04110 Cell cycle

hsa04020 Calcium signaling pathway

hsa04151 PI3K-Akt signaling pathway

Network

nt06512 Chromosome cohesion and segregation
nt06515 Regulation of kinetochore-microtubule interactions
nt06523 Epigenetic regulation by Polycomb complexes
nt06528 Calcium signaling
nt06530 PI3K signaling

Gene

(MRD1) MBD5 [HSA:55777] [KO:K23219]
(MRD2) DOCK8 [HSA:81704] [KO:K21852]
(MRD3) CDH15 [HSA:1013] [KO:K06809]
(MRD4) KIRREL3 [HSA:84623] [KO:K25874]
(MRD5) SYNGAP1 [HSA:8831] [KO:K17631]
(MRD6) GRIN2B [HSA:2904] [KO:K05210]
(MRD7) DYRK1A [HSA:1859] [KO:K08825]
(MRD8) GRIN1 [HSA:2902] [KO:K05208]
(MRD9) KIF1A [HSA:547] [KO:K10392]
(MRD10) CACNG2 [HSA:10369] [KO:K04867]
(MRD11) EPB41L1 [HSA:2036] [KO:K23961]
(MRD12) ARID1B [HSA:57492] [KO:K11653]
(MRD13) DYNC1H1 [HSA:1778] [KO:K10413]
(MRD14) ARID1A [HSA:8289] [KO:K11653]
(MRD15) SMARCB1 [HSA:6598] [KO:K11648]
(MRD16) SMARCA4 [HSA:6597] [KO:K11647]
(MRD17) PACS1 [HSA:55690] [KO:K23290]
(MRD18) GATAD2B [HSA:57459] [KO:K23194]
(MRD19) CTNNB1 [HSA:1499] [KO:K02105]
(MRD20) MEF2C [HSA:4208] [KO:K04454]
(MRD21) CTCF [HSA:10664] [KO:K23195]
(MRD22) ZBTB18 [HSA:10472] [KO:K23196]
(MRD23) SETD5 [HSA:55209] [KO:K23216]
(MRD24) DEAF1 [HSA:10522] [KO:K23041]
(MRD25) AHDC1 [HSA:27245] [KO:K22592]
(MRD26) AUTS2 [HSA:26053] [KO:K23214]
(MRD27) SOX11 [HSA:6664] [KO:K09268]
(MRD29) SETBP1 [HSA:26040] [KO:K23217]
(MRD30) ZMYND11 [HSA:10771] [KO:K23218]
(MRD31) PURA [HSA:5813] [KO:K21772]
(MRD32) KAT6A [HSA:7994] [KO:K11305]
(MRD33) DPP6 [HSA:1804] [KO:K23013]
(MRD34) COL4A3BP [HSA:10087] [KO:K08283]
(MRD35) PPP2R5D [HSA:5528] [KO:K11584]
(MRD36) PPP2R1A [HSA:5518] [KO:K03456]
(MRD38) EEF1A2 [HSA:1917] [KO:K03231]
(MRD39) MYT1L [HSA:23040] [KO:K23193]
(MRD40) CHAMP1 [HSA:283489] [KO:K22593]
(MRD41) TBL1XR1 [HSA:79718] [KO:K04508]
(MRD42) GNB1 [HSA:2782] [KO:K04536]
(MRD43) HIVEP2 [HSA:3097] [KO:K09239]
(MRD44/63) TRIO [HSA:7204] [KO:K08810]
(MRD45) CIC [HSA:23152] [KO:K20225]
(MRD46) KCNQ5 [HSA:56479] [KO:K04930]
(MRD47) STAG1 [HSA:10274] [KO:K06671]
(MRD48) RAC1 [HSA:5879] [KO:K04392]
(MRD49) TRIP12 [HSA:9320] [KO:K10590]
(MRD50) NAA15 [HSA:80155] [KO:K20792]
(MRD51) KMT5B [HSA:51111] [KO:K11429]
(MRD52) ASH1L [HSA:55870] [KO:K06101]
(MRD53) CAMK2A [HSA:815] [KO:K04515]
(MRD54) CAMK2B [HSA:816] [KO:K04515]
(MRD55) NUS1 [HSA:116150] [KO:K19177]
(MRD56) CLTC [HSA:1213] [KO:K04646]
(MRD57) TLK2 [HSA:11011] [KO:K08864]
(MRD58) SET [HSA:6418] [KO:K11290]
(MRD59) CAMK2G [HSA:818] [KO:K04515]
(MRD60) AP2M1 [HSA:1173] [KO:K11826]
(MRD61) MED13 [HSA:9969] [KO:K15164]
(MRD62) DLG4 [HSA:1742] [KO:K11828]
(MRD64) ZNF292 [HSA:23036] [KO:K26728]
(MRD65) KDM4B [HSA:23030] [KO:K06709]
(MRD66) ATP2B1 [HSA:490] [KO:K05850]
(MRD67) GRIA1 [HSA:2890] [KO:K05197]
(MRD68) KMT2B [HSA:9757] [KO:K14959]
(MRD69) LMAN2L [HSA:81562] [KO:K10083]
(MRD70) SETD2 [HSA:29072] [KO:K11423]
(MRD71) RFX7 [HSA:64864] [KO:K09175]
(MRD72) SRRM2 [HSA:23524] [KO:K13172]
(MRD73) TAF4 [HSA:6874] [KO:K03129]
(MRD74) HNRNPC [HSA:3183] [KO:K12884]

Other DBs

ICD-11:

6A00

ICD-10:

F78.9

MeSH:

C566947 C567241 C567240 C567234

Reference

PMID:19904302 (MRD1)

Authors

Williams SR, Mullegama SV, Rosenfeld JA, Dagli AI, Hatchwell E, Allen WP, Williams CA, Elsea SH

Title

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.

Journal

Eur J Hum Genet 18:436-41 (2010)
DOI:10.1038/ejhg.2009.199

Reference

PMID:18060736 (MRD2)

Authors

Griggs BL, Ladd S, Saul RA, DuPont BR, Srivastava AK

Title

Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities.

Journal

Genomics 91:195-202 (2008)
DOI:10.1016/j.ygeno.2007.10.011

Reference

PMID:19012874 (MRD3 MRD4)

Authors

Bhalla K, Luo Y, Buchan T, Beachem MA, Guzauskas GF, Ladd S, Bratcher SJ, Schroer RJ, Balsamo J, DuPont BR, Lilien J, Srivastava AK

Title

Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.

Journal

Am J Hum Genet 83:703-13 (2008)
DOI:10.1016/j.ajhg.2008.10.020

Reference

PMID:19196676 (MRD5)

Authors

Hamdan FF, Gauthier J, Spiegelman D, Noreau A, Yang Y, Pellerin S, Dobrzeniecka S, Cote M, Perreau-Linck E, Carmant L, D'Anjou G, Fombonne E, Addington AM, Rapoport JL, Delisi LE, Krebs MO, Mouaffak F, Joober R, Mottron L, Drapeau P, Marineau C, Lafreniere RG, Lacaille JC, Rouleau GA, Michaud JL

Title

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.

Journal

N Engl J Med 360:599-605 (2009)
DOI:10.1056/NEJMoa0805392

Reference

PMID:20890276 (MRD6)

Authors

Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortum F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tonnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K

Title

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

Journal

Nat Genet 42:1021-6 (2010)
DOI:10.1038/ng.677

Reference

PMID:21294719 (MRD7)

Authors

van Bon BW, Hoischen A, Hehir-Kwa J, de Brouwer AP, Ruivenkamp C, Gijsbers AC, Marcelis CL, de Leeuw N, Veltman JA, Brunner HG, de Vries BB

Title

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.

Journal

Clin Genet 79:296-9 (2011)
DOI:10.1111/j.1399-0004.2010.01544.x

Reference

PMID:21376300 (MRD8, MRD9, MRD10, MRD11)

Authors

Hamdan FF, Gauthier J, Araki Y, Lin DT, Yoshizawa Y, Higashi K, Park AR, Spiegelman D, Dobrzeniecka S, Piton A, Tomitori H, Daoud H, Massicotte C, Henrion E, Diallo O, Shekarabi M, Marineau C, Shevell M, Maranda B, Mitchell G, Nadeau A, D'Anjou G, Vanasse M, Srour M, Lafreniere RG, Drapeau P, Lacaille JC, Kim E, Lee JR, Igarashi K, Huganir RL, Rouleau GA, Michaud JL

Title

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

Journal

Am J Hum Genet 88:306-16 (2011)
DOI:10.1016/j.ajhg.2011.02.001

Reference

PMID:22426308 (MRD12, MRD14, MRD15, MRD16)

Authors

Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N

Title

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

Journal

Nat Genet 44:376-8 (2012)
DOI:10.1038/ng.2219

Reference

PMID:22368300 (MRD13)

Authors

Willemsen MH, Vissers LE, Willemsen MA, van Bon BW, Kroes T, de Ligt J, de Vries BB, Schoots J, Lugtenberg D, Hamel BC, van Bokhoven H, Brunner HG, Veltman JA, Kleefstra T

Title

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

Journal

J Med Genet 49:179-83 (2012)
DOI:10.1136/jmedgenet-2011-100542

Reference

PMID:23159249 (MRD17)

Authors

Schuurs-Hoeijmakers JH, Oh EC, Vissers LE, Swinkels ME, Gilissen C, Willemsen MA, Holvoet M, Steehouwer M, Veltman JA, de Vries BB, van Bokhoven H, de Brouwer AP, Katsanis N, Devriendt K, Brunner HG

Title

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

Journal

Am J Hum Genet 91:1122-7 (2012)
DOI:10.1016/j.ajhg.2012.10.013

Reference

PMID:23644463 (MRD18)

Authors

Willemsen MH, Nijhof B, Fenckova M, Nillesen WM, Bongers EM, Castells-Nobau A, Asztalos L, Viragh E, van Bon BW, Tezel E, Veltman JA, Brunner HG, de Vries BB, de Ligt J, Yntema HG, van Bokhoven H, Isidor B, Le Caignec C, Lorino E, Asztalos Z, Koolen DA, Vissers LE, Schenck A, Kleefstra T

Title

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

Journal

J Med Genet 50:507-14 (2013)
DOI:10.1136/jmedgenet-2012-101490

Reference

PMID:23033978 (MRD19 MRD67)

Authors

de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE

Title

Diagnostic exome sequencing in persons with severe intellectual disability.

Journal

N Engl J Med 367:1921-9 (2012)
DOI:10.1056/NEJMoa1206524

Reference

PMID:20513142 (MRD20)

Authors

Zweier M, Gregor A, Zweier C, Engels H, Sticht H, Wohlleber E, Bijlsma EK, Holder SE, Zenker M, Rossier E, Grasshoff U, Johnson DS, Robertson L, Firth HV, Ekici AB, Reis A, Rauch A

Title

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

Journal

Hum Mutat 31:722-33 (2010)
DOI:10.1002/humu.21253

Reference

PMID:23746550 (MRD21)

Authors

Gregor A, Oti M, Kouwenhoven EN, Hoyer J, Sticht H, Ekici AB, Kjaergaard S, Rauch A, Stunnenberg HG, Uebe S, Vasileiou G, Reis A, Zhou H, Zweier C

Title

De novo mutations in the genome organizer CTCF cause intellectual disability.

Journal

Am J Hum Genet 93:124-31 (2013)
DOI:10.1016/j.ajhg.2013.05.007

Reference

PMID:21800092 (MRD22)

Authors

Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Bamforth JS, Babu D, Niyazov DM, Ravnan JB, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG

Title

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

Journal

Hum Genet 131:145-56 (2012)
DOI:10.1007/s00439-011-1073-y

Reference

PMID:24680889 (MRD23)

Authors

Grozeva D, Carss K, Spasic-Boskovic O, Parker MJ, Archer H, Firth HV, Park SM, Canham N, Holder SE, Wilson M, Hackett A, Field M, Floyd JA, Hurles M, Raymond FL

Title

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.

Journal

Am J Hum Genet 94:618-24 (2014)
DOI:10.1016/j.ajhg.2014.03.006

Reference

PMID:21076407 (MRD24)

Authors

Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, del Rosario M, van Bon BW, Hoischen A, de Vries BB, Brunner HG, Veltman JA

Title

A de novo paradigm for mental retardation.

Journal

Nat Genet 42:1109-12 (2010)
DOI:10.1038/ng.712

Reference

PMID:24791903 (MRD25)

Authors

Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA

Title

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

Journal

Am J Hum Genet 94:784-9 (2014)
DOI:10.1016/j.ajhg.2014.04.006

Reference

PMID:23332918 (MRD26)

Authors

Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA

Title

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

Journal

Am J Hum Genet 92:210-20 (2013)
DOI:10.1016/j.ajhg.2012.12.011

Reference

PMID:24886874 (MRD27)

Authors

Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K, Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N

Title

De novo SOX11 mutations cause Coffin-Siris syndrome.

Journal

Nat Commun 5:4011 (2014)
DOI:10.1038/ncomms5011

Reference

PMID:25217958 (MRD29 MRD30)

Authors

Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gecz J, de Vries BB, Romano C, Eichler EE

Title

Refining analyses of copy number variation identifies specific genes associated with developmental delay.

Journal

Nat Genet 46:1063-71 (2014)
DOI:10.1038/ng.3092

Reference

PMID:25439098 (MRD31)

Authors

Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F

Title

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

Journal

Am J Hum Genet 95:579-83 (2014)
DOI:10.1016/j.ajhg.2014.09.014

Reference

PMID:25728777 (MRD32)

Authors

Tham E, Lindstrand A, Santani A, Malmgren H, Nesbitt A, Dubbs HA, Zackai EH, Parker MJ, Millan F, Rosenbaum K, Wilson GN, Nordgren A

Title

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Journal

Am J Hum Genet 96:507-13 (2015)
DOI:10.1016/j.ajhg.2015.01.016

Reference

PMID:23832105 (MRD33)

Authors

Liao C, Fu F, Li R, Yang WQ, Liao HY, Yan JR, Li J, Li SY, Yang X, Li DZ

Title

Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation.

Journal

Eur J Med Genet 56:484-9 (2013)
DOI:10.1016/j.ejmg.2013.06.008

Reference

PMID:25533962 (MRD34 MRD35 MRD36 MRD40)

Title

Large-scale discovery of novel genetic causes of developmental disorders.

Journal

Nature 519:223-8 (2015)
DOI:10.1038/nature14135

Reference

PMID:24697219 (MRD38)

Authors

Nakajima J, Okamoto N, Tohyama J, Kato M, Arai H, Funahashi O, Tsurusaki Y, Nakashima M, Kawashima H, Saitsu H, Matsumoto N, Miyake N

Title

De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.

Journal

Clin Genet 87:356-61 (2015)
DOI:10.1111/cge.12394

Reference

PMID:25232846 (MRD39)

Authors

De Rocker N, Vergult S, Koolen D, Jacobs E, Hoischen A, Zeesman S, Bang B, Bena F, Bockaert N, Bongers EM, de Ravel T, Devriendt K, Giglio S, Faivre L, Joss S, Maas S, Marle N, Novara F, Nowaczyk MJ, Peeters H, Polstra A, Roelens F, Rosenberg C, Thevenon J, Tumer Z, Vanhauwaert S, Varvagiannis K, Willaert A, Willemsen M, Willems M, Zuffardi O, Coucke P, Speleman F, Eichler EE, Kleefstra T, Menten B

Title

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

Journal

Genet Med 17:460-6 (2015)
DOI:10.1038/gim.2014.124

Reference

PMID:25102098 (MRD41)

Authors

Saitsu H, Tohyama J, Walsh T, Kato M, Kobayashi Y, Lee M, Tsurusaki Y, Miyake N, Goto Y, Nishino I, Ohtake A, King MC, Matsumoto N

Title

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

Journal

J Hum Genet 59:581-3 (2014)
DOI:10.1038/jhg.2014.71

Reference

PMID:27108799 (MRD42)

Authors

Petrovski S, Kury S, Myers CT, Anyane-Yeboa K, Cogne B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G, Rosen AB, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen JM, Bezieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB

Title

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

Journal

Am J Hum Genet 98:1001-10 (2016)
DOI:10.1016/j.ajhg.2016.03.011

Reference

PMID:23020937 (MRD43)

Authors

Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Ropke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schrock E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM

Title

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

Journal

Lancet 380:1674-82 (2012)
DOI:10.1016/S0140-6736(12)61480-9

Reference

PMID:26721934 (MRD44)

Authors

Ba W, Yan Y, Reijnders MR, Schuurs-Hoeijmakers JH, Feenstra I, Bongers EM, Bosch DG, De Leeuw N, Pfundt R, Gilissen C, De Vries PF, Veltman JA, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Nadif Kasri N, De Vries BB

Title

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.

Journal

Hum Mol Genet 25:892-902 (2016)
DOI:10.1093/hmg/ddv618

Reference

PMID:28288114 (MRD45)

Authors

Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY

Title

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.

Journal

Nat Genet 49:527-536 (2017)
DOI:10.1038/ng.3808

Reference

PMID:28669405 (MRD46)

Authors

Lehman A, Thouta S, Mancini GMS, Naidu S, van Slegtenhorst M, McWalter K, Person R, Mwenifumbo J, Salvarinova R, Guella I, McKenzie MB, Datta A, Connolly MB, Kalkhoran SM, Poburko D, Friedman JM, Farrer MJ, Demos M, Desai S, Claydon T

Title

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.

Journal

Am J Hum Genet 101:65-74 (2017)
DOI:10.1016/j.ajhg.2017.05.016

Reference

PMID:28119487 (MRD47)

Authors

Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, Devinsky O, Duffourd Y, Duplomb-Jego L, Gerard B, Jacquette A, Kuentz P, Masurel-Paulet A, McDougall C, Moutton S, Olivie H, Park SM, Rauch A, Revencu N, Riviere JB, Rubin K, Simonic I, Shears DJ, Smol T, Taylor Tavares AL, Terhal P, Thevenon J, Van Gassen K, Vincent-Delorme C, Willemsen MH, Wilson GN, Zackai E, Zweier C, Callier P, Thauvin-Robinet C, Faivre L

Title

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

Journal

J Med Genet 54:479-488 (2017)
DOI:10.1136/jmedgenet-2016-104468

Reference

PMID:28886345 (MRD48)

Authors

Reijnders MRF, Ansor NM, Kousi M, Yue WW, Tan PL, Clarkson K, Clayton-Smith J, Corning K, Jones JR, Lam WWK, Mancini GMS, Marcelis C, Mohammed S, Pfundt R, Roifman M, Cohn R, Chitayat D, Millard TH, Katsanis N, Brunner HG, Banka S

Title

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Journal

Am J Hum Genet 101:466-477 (2017)
DOI:10.1016/j.ajhg.2017.08.007

Reference

PMID:27479843 (MRD49 MRD57 MRD62)

Authors

Lelieveld SH, Reijnders MR, Pfundt R, Yntema HG, Kamsteeg EJ, de Vries P, de Vries BB, Willemsen MH, Kleefstra T, Lohner K, Vreeburg M, Stevens SJ, van der Burgt I, Bongers EM, Stegmann AP, Rump P, Rinne T, Nelen MR, Veltman JA, Vissers LE, Brunner HG, Gilissen C

Title

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

Journal

Nat Neurosci 19:1194-6 (2016)
DOI:10.1038/nn.4352

Reference

PMID:28191889 (MRD50 MRD51 MRD52)

Authors

Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjold M, Schenck A, Bernier RA, Eichler EE

Title

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

Journal

Nat Genet 49:515-526 (2017)
DOI:10.1038/ng.3792

Reference

PMID:29100089 (MRD53 MRD54)

Authors

Kury S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denomme-Pichon AS, Lesca G, Sellars EA, Berg J, Carre W, Busk OL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla OL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogne B, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bezieau S, Odent S, Elgersma Y, Mercier S

Title

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Journal

Am J Hum Genet 101:768-788 (2017)
DOI:10.1016/j.ajhg.2017.10.003

Reference

PMID:29100083 (MRD55 MRD56)

Authors

Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Ounap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafreniere RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL

Title

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Journal

Am J Hum Genet 101:664-685 (2017)
DOI:10.1016/j.ajhg.2017.09.008

Reference

PMID:29688601 (MRD58)

Authors

Stevens SJC, van der Schoot V, Leduc MS, Rinne T, Lalani SR, Weiss MM, van Hagen JM, Lachmeijer AMA, Stockler-Ipsiroglu SG, Lehman A, Brunner HG

Title

De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability.

Journal

Hum Mutat 39:1014-1023 (2018)
DOI:10.1002/humu.23541

Reference

PMID:30184290 (MRD59)

Authors

Proietti Onori M, Koopal B, Everman DB, Worthington JD, Jones JR, Ploeg MA, Mientjes E, van Bon BW, Kleefstra T, Schulman H, Kushner SA, Kury S, Elgersma Y, van Woerden GM

Title

The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function.

Journal

Hum Mutat 39:2008-2024 (2018)
DOI:10.1002/humu.23647

Reference

PMID:31104773 (MRD60)

Authors

Helbig I, Lopez-Hernandez T, Shor O, Galer P, Ganesan S, Pendziwiat M, Rademacher A, Ellis CA, Humpfer N, Schwarz N, Seiffert S, Peeden J, Shen J, Sterbova K, Hammer TB, Moller RS, Shinde DN, Tang S, Smith L, Poduri A, Krause R, Benninger F, Helbig KL, Haucke V, Weber YG

Title

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.

Journal

Am J Hum Genet 104:1060-1072 (2019)
DOI:10.1016/j.ajhg.2019.04.001

Reference

PMID:29740699 (MRD61)

Authors

Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA, McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM

Title

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.

Journal

Hum Genet 137:375-388 (2018)
DOI:10.1007/s00439-018-1887-y

Reference

PMID:32109419 (MRD63)

Authors

Barbosa S, Greville-Heygate S, Bonnet M, Godwin A, Fagotto-Kaufmann C, Kajava AV, Laouteouet D, Mawby R, Wai HA, Dingemans AJM, Hehir-Kwa J, Willems M, Capri Y, Mehta SG, Cox H, Goudie D, Vansenne F, Turnpenny P, Vincent M, Cogne B, Lesca G, Hertecant J, Rodriguez D, Keren B, Burglen L, Gerard M, Putoux A, Cantagrel V, Siquier-Pernet K, Rio M, Banka S, Sarkar A, Steeves M, Parker M, Clement E, Moutton S, Tran Mau-Them F, Piton A, de Vries BBA, Guille M, Debant A, Schmidt S, Baralle D

Title

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.

Journal

Am J Hum Genet 106:338-355 (2020)
DOI:10.1016/j.ajhg.2020.01.018

Reference

PMID:31723249 (MRD64)

Authors

Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Genevieve D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA, Eichler EE, Vincent JB, Bamshad MJ

Title

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Journal

Genet Med 22:538-546 (2020)
DOI:10.1038/s41436-019-0693-9

Reference

PMID:33232677 (MRD65)

Authors

Duncan AR, Vitobello A, Collins SC, Vancollie VE, Lelliott CJ, Rodan L, Shi J, Seman AR, Agolini E, Novelli A, Prontera P, Guillen Sacoto MJ, Santiago-Sim T, Trimouille A, Goizet C, Nizon M, Bruel AL, Philippe C, Grant PE, Wojcik MH, Stoler J, Genetti CA, van Dooren MF, Maas SM, Alders M, Faivre L, Sorlin A, Yoon G, Yalcin B, Agrawal PB

Title

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.

Journal

Am J Hum Genet 107:1170-1177 (2020)
DOI:10.1016/j.ajhg.2020.11.001

Reference

PMID:35358416 (MRD66)

Authors

Rahimi MJ, Urban N, Wegler M, Sticht H, Schaefer M, Popp B, Gaunitz F, Morleo M, Nigro V, Maitz S, Mancini GMS, Ruivenkamp C, Suk EK, Bartolomaeus T, Merkenschlager A, Koboldt D, Bartholomew D, Stegmann APA, Sinnema M, Duynisveld I, Salvarinova R, Race S, de Vries BBA, Trimouille A, Naudion S, Marom D, Hamiel U, Henig N, Demurger F, Rahner N, Bartels E, Hamm JA, Putnam AM, Person R, Abou Jamra R, Oppermann H

Title

De novo variants in ATP2B1 lead to neurodevelopmental delay.

Journal

Am J Hum Genet 109:944-952 (2022)
DOI:10.1016/j.ajhg.2022.03.009

Reference

PMID:29276005 (MRD68)

Authors

Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J, Dallapiccola B, Davies SJ, Demos MK, Goldman A, Gill H, Horton R, Kerr B, Kumar D, Lehman A, McKee S, Morton J, Parker MJ, Rankin J, Robertson L, Temple IK, Banka S

Title

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Journal

Am J Hum Genet 102:175-187 (2018)
DOI:10.1016/j.ajhg.2017.11.013

Reference

PMID:31020005 (MRD69)

Authors

Alkhater RA, Wang P, Ruggieri A, Israelian L, Walker S, Scherer SW, Smith ML, Minassian BA

Title

Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy.

Journal

Ann Clin Transl Neurol 6:807-811 (2019)
DOI:10.1002/acn3.727

Reference

PMID:32710489 (MRD70)

Authors

Rabin R, Radmanesh A, Glass IA, Dobyns WB, Aldinger KA, Shieh JT, Romoser S, Bombei H, Dowsett L, Trapane P, Bernat JA, Baker J, Mendelsohn NJ, Popp B, Siekmeyer M, Sorge I, Sansbury FH, Watts P, Foulds NC, Burton J, Hoganson G, Hurst JA, Menzies L, Osio D, Kerecuk L, Cobben JM, Jizi K, Jacquemont S, Belanger SA, Lohner K, Veenstra-Knol HE, Lemmink HH, Keller-Ramey J, Wentzensen IM, Punj S, McWalter K, Lenberg J, Ellsworth KA, Radtke K, Akbarian S, Pappas J

Title

Genotype-phenotype correlation at codon 1740 of SETD2.

Journal

Am J Med Genet A 182:2037-2048 (2020)
DOI:10.1002/ajmg.a.61724

Reference

PMID:33658631 (MRD71)

Authors

Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL, Buchanan C, Willing M, Toler TL, Fassi E, Baker L, Vansenne F, Wang X, Ambrus JL Jr, Fannemel M, Posey JE, Agolini E, Novelli A, Rauch A, Boonsawat P, Fagerberg CR, Larsen MJ, Kibaek M, Labalme A, Poisson A, Payne KK, Walsh LE, Aldinger KA, Balciuniene J, Skraban C, Gray C, Murrell J, Bupp CP, Pascolini G, Grammatico P, Broly M, Kury S, Nizon M, Rasool IG, Zahoor MY, Kraus C, Reis A, Iqbal M, Uguen K, Audebert-Bellanger S, Ferec C, Redon S, Baker J, Wu Y, Zampino G, Syrbe S, Brosse I, Jamra RA, Dobyns WB, Cohen LL, Blomhoff A, Mignot C, Keren B, Courtin T, Agrawal PB, Beggs AH, Yu TW

Title

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Journal

Genet Med 23:1028-1040 (2021)
DOI:10.1038/s41436-021-01114-z

Reference

PMID:35567594 (MRD72)

Authors

Cuinat S, Nizon M, Isidor B, Stegmann A, van Jaarsveld RH, van Gassen KL, van der Smagt JJ, Volker-Touw CML, Holwerda SJB, Terhal PA, Schuhmann S, Vasileiou G, Khalifa M, Nugud AA, Yasaei H, Ousager LB, Brasch-Andersen C, Deb W, Besnard T, Simon MEH, Amsterdam KH, Verbeek NE, Matalon D, Dykzeul N, White S, Spiteri E, Devriendt K, Boogaerts A, Willemsen M, Brunner HG, Sinnema M, De Vries BBA, Gerkes EH, Pfundt R, Izumi K, Krantz ID, Xu ZL, Murrell JR, Valenzuela I, Cusco I, Rovira-Moreno E, Yang Y, Bizaoui V, Patat O, Faivre L, Tran-Mau-Them F, Vitobello A, Denomme-Pichon AS, Philippe C, Bezieau S, Cogne B

Title

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.

Journal

Genet Med 24:1774-1780 (2022)
DOI:10.1016/j.gim.2022.04.011

Reference

PMID:35904126 (MRD73)

Authors

Janssen BDE, van den Boogaard MH, Lichtenbelt K, Seaby EG, Stals K, Ellard S, Newbury-Ecob R, Dixit A, Roht L, Pajusalu S, Ounap K, Firth HV, Buckley M, Wilson M, Roscioli T, Tidwell T, Mao R, Ennis S, Holwerda SJ, van Gassen K, van Jaarsveld RH

Title

De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.

Journal

Hum Mutat 43:1844-1851 (2022)
DOI:10.1002/humu.24444

Reference

PMID:37541189 (MRD74)

Authors

Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D, Elgersma Y, van Esbroeck ACM

Title

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

Journal

Am J Hum Genet 110:1414-1435 (2023)
DOI:10.1016/j.ajhg.2023.07.005

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