KEGG   DISEASE: 常染色体劣性遺伝性精神遅滞
エントリ  
H00768                                                             

名称    
常染色体劣性遺伝性精神遅滞
概要    
精神遅滞はIQや適応能力が低いことを特徴とする神経発達障害であり、主にX連鎖性精神遅滞を中心に研究が進められて来たが、近年、常染色体劣性精神遅滞の原因となる遺伝子の変異も複数報告されている。それらの遺伝子の機能も働く経路も様々である。更に遺伝子がまだ確定していない原因遺伝子座も複数知られている。
カテゴリ  
精神及び行動の障害
階層分類  
ヒト疾患 [BR:jp08402]
 その他の疾患
  精神及び行動の障害
   H00768  常染色体劣性遺伝性精神遅滞
ICD-11 による疾患分類 [BR:jp08403]
 06 Mental, behavioural or neurodevelopmental disorders
  Neurodevelopmental disorders
   6A00  Disorders of intellectual development
    H00768  常染色体劣性遺伝性精神遅滞
パスウェイ 
hsa00513  多様な N-グリカンの生合成
病因遺伝子 
(MRT1) PRSS12 [HSA:8492] [KO:K09624]
(MRT2) CRBN [HSA:51185] [KO:K11793]
(MRT3) CC2D1A [HSA:54862] [KO:K18260]
(MRT5) NSUN2 [HSA:54888] [KO:K15335]
(MRT6) GRIK2 [HSA:2898] [KO:K05202]
(MRT7) TUSC3 [HSA:7991] [KO:K12669]
(MRT12) ST3GAL3 [HSA:6487] [KO:K00781]
(MRT13) TRAPPC9 [HSA:83696] [KO:K20306]
(MRT14) TECR [HSA:9524] [KO:K10258]
(MRT15) MAN1B1 [HSA:11253] [KO:K23741]
(MRT18) MED23 [HSA:9439] [KO:K15166]
(MRT27) LINS1 [HSA:55180] [KO:K22533]
(MRT34) CRADD [HSA:8738] [KO:K02832]
(MRT36) ADAT3 [HSA:113179] [KO:K15442]
(MRT37) ANK3 [HSA:288] [KO:K10380]
(MRT38) HERC2 [HSA:8924] [KO:K10595]
(MRT39) TTI2 [HSA:80185] [KO:K23115]
(MRT40) TAF2 [HSA:6873] [KO:K03128]
(MRT41) KPTN [HSA:11133] [KO:K23295]
(MRT42) PGAP1 [HSA:80055] [KO:K05294]
(MRT43) WASHC4 [HSA:23325] [KO:K18465]
(MRT44) METTL23 [HSA:124512] [KO:K23151]
(MRT45) FBXO31 [HSA:79791] [KO:K10308]
(MRT46) DNST1 [HSA:3340] [KO:K02576]
(MRT47) FMN2 [HSA:56776] [KO:K02184]
(MRT48) SLC6A17 [HSA:388662] [KO:K05048]
(MRT49) GPT2 [HSA:84706] [KO:K00814]
(MRT50) EDC3 [HSA:80153] [KO:K12615]
(MRT51) HNMT [HSA:3176] [KO:K00546]
(MRT52) LMAN2L [HSA:81562] [KO:K10083]
(MRT53) PIGG [HSA:54872] [KO:K05310]
(MRT54) TNIK [HSA:23043] [KO:K08840]
(MRT55) PUS3 [HSA:83480] [KO:K01855]
(MRT56) ZC3H14 [HSA:79882] [KO:K23038]
(MRT57) MBOAT7 [HSA:79143] [KO:K13516]
(MRT58) ELP2 [HSA:55250] [KO:K11374]
(MRT59) IMPA1 [HSA:3612] [KO:K01092]
(MRT60) TAF13 [HSA:6884] [KO:K03127]
リンク   
ICD-11: 6A00
ICD-10: F78.9
MeSH: D008607
OMIM: 249500 607417 608443 611091 611092 611093 611090 613192 614020 614202 614249 614340 614499 615286 615493 615516 615541 615599 615637 615802 615817 615942 615979 616116 616193 616269 616281 616460 616739 616887 616917 617028 617051 617125 617188 617270 617323 617432
文献    
  著者
Kuss AW, Garshasbi M, Kahrizi K, Tzschach A, Behjati F, Darvish H, Abbasi-Moheb L, Puettmann L, Zecha A, Weissmann R, Hu H, Mohseni M, Abedini SS, Rajab A, Hertzberg C, Wieczorek D, Ullmann R, Ghasemi-Firouzabadi S, Banihashemi S, Arzhangi S, Hadavi V, Bahrami-Monajemi G, Kasiri M, Falah M, Nikuei P, Dehghan A, Sobhani M, Jamali P, Ropers HH, Najmabadi H
  タイトル
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.
  雑誌
Hum Genet 129:141-8 (2011)
DOI:10.1007/s00439-010-0907-3
文献    
  著者
Mitsui S, Osako Y, Yokoi F, Dang MT, Yuri K, Li Y, Yamaguchi N
  タイトル
A mental retardation gene, motopsin/neurotrypsin/prss12, modulates hippocampal function and social interaction.
  雑誌
Eur J Neurosci 30:2368-78 (2009)
DOI:10.1111/j.1460-9568.2009.07029.x
文献    
  著者
Xin W, Xiaohua N, Peilin C, Xin C, Yaqiong S, Qihan W
  タイトル
Primary function analysis of human mental retardation related gene CRBN.
  雑誌
Mol Biol Rep 35:251-6 (2008)
DOI:10.1007/s11033-007-9077-3
文献    
  著者
Rogaeva A, Albert PR
  タイトル
The mental retardation gene CC2D1A/Freud-1 encodes a long isoform that binds conserved DNA elements to repress gene transcription.
  雑誌
Eur J Neurosci 26:965-74 (2007)
DOI:10.1111/j.1460-9568.2007.05727.x
文献    
  著者
Motazacker MM, Rost BR, Hucho T, Garshasbi M, Kahrizi K, Ullmann R, Abedini SS, Nieh SE, Amini SH, Goswami C, Tzschach A, Jensen LR, Schmitz D, Ropers HH, Najmabadi H, Kuss AW
  タイトル
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.
  雑誌
Am J Hum Genet 81:792-8 (2007)
DOI:10.1086/521275
文献    
  著者
Garshasbi M, Hadavi V, Habibi H, Kahrizi K, Kariminejad R, Behjati F, Tzschach A, Najmabadi H, Ropers HH, Kuss AW
  タイトル
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation.
  雑誌
Am J Hum Genet 82:1158-64 (2008)
DOI:10.1016/j.ajhg.2008.03.018
文献    
  著者
Hu H, Eggers K, Chen W, Garshasbi M, Motazacker MM, Wrogemann K, Kahrizi K, Tzschach A, Hosseini M, Bahman I, Hucho T, Muhlenhoff M, Gerardy-Schahn R, Najmabadi H, Ropers HH, Kuss AW
  タイトル
ST3GAL3 mutations impair the development of higher cognitive functions.
  雑誌
Am J Hum Genet 89:407-14 (2011)
DOI:10.1016/j.ajhg.2011.08.008
文献    
  著者
Mir A, Kaufman L, Noor A, Motazacker MM, Jamil T, Azam M, Kahrizi K, Rafiq MA, Weksberg R, Nasr T, Naeem F, Tzschach A, Kuss AW, Ishak GE, Doherty D, Ropers HH, Barkovich AJ, Najmabadi H, Ayub M, Vincent JB
  タイトル
Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.
  雑誌
Am J Hum Genet 85:909-15 (2009)
DOI:10.1016/j.ajhg.2009.11.009
文献    
  著者
Murakami Y, Tawamie H, Maeda Y, Buttner C, Buchert R, Radwan F, Schaffer S, Sticht H, Aigner M, Reis A, Kinoshita T, Jamra RA
  タイトル
Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
  雑誌
PLoS Genet 10:e1004320 (2014)
DOI:10.1371/journal.pgen.1004320
文献    
  著者
Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub M, Moremen KW, Vincent JB, Ropers HH, Ansar M, Najmabadi H
  タイトル
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
  雑誌
Am J Hum Genet 89:176-82 (2011)
DOI:10.1016/j.ajhg.2011.06.006
文献    
  著者
Reuter MS, Musante L, Hu H, Diederich S, Sticht H, Ekici AB, Uebe S, Wienker TF, Bartsch O, Zechner U, Oppitz C, Keleman K, Jamra RA, Najmabadi H, Schweiger S, Reis A, Kahrizi K
  タイトル
NDST1 missense mutations in autosomal recessive intellectual disability.
  雑誌
Am J Med Genet A 164A:2753-63 (2014)
DOI:10.1002/ajmg.a.36723
文献    
  著者
Abbasi-Moheb L, Mertel S, Gonsior M, Nouri-Vahid L, Kahrizi K, Cirak S, Wieczorek D, Motazacker MM, Esmaeeli-Nieh S, Cremer K, Weissmann R, Tzschach A, Garshasbi M, Abedini SS, Najmabadi H, Ropers HH, Sigrist SJ, Kuss AW
  タイトル
Mutations in NSUN2 cause autosomal-recessive intellectual disability.
  雑誌
Am J Hum Genet 90:847-55 (2012)
DOI:10.1016/j.ajhg.2012.03.021
文献    
  著者
Caliskan M, Chong JX, Uricchio L, Anderson R, Chen P, Sougnez C, Garimella K, Gabriel SB, dePristo MA, Shakir K, Matern D, Das S, Waggoner D, Nicolae DL, Ober C
  タイトル
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.
  雑誌
Hum Mol Genet 20:1285-9 (2011)
DOI:10.1093/hmg/ddq569
文献    
  著者
Hashimoto S, Boissel S, Zarhrate M, Rio M, Munnich A, Egly JM, Colleaux L
  タイトル
MED23 mutation links intellectual disability to dysregulation of immediate early gene expression.
  雑誌
Science 333:1161-3 (2011)
DOI:10.1126/science.1206638
文献    
  著者
Iqbal Z, Vandeweyer G, van der Voet M, Waryah AM, Zahoor MY, Besseling JA, Roca LT, Vulto-van Silfhout AT, Nijhof B, Kramer JM, Van der Aa N, Ansar M, Peeters H, Helsmoortel C, Gilissen C, Vissers LE, Veltman JA, de Brouwer AP, Frank Kooy R, Riazuddin S, Schenck A, van Bokhoven H, Rooms L
  タイトル
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.
  雑誌
Hum Mol Genet 22:1960-70 (2013)
DOI:10.1093/hmg/ddt043
文献    
  著者
Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Puttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH
  タイトル
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
  雑誌
Nature 478:57-63 (2011)
DOI:10.1038/nature10423
文献    
  著者
Ropers F, Derivery E, Hu H, Garshasbi M, Karbasiyan M, Herold M, Nurnberg G, Ullmann R, Gautreau A, Sperling K, Varon R, Rajab A
  タイトル
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.
  雑誌
Hum Mol Genet 20:2585-90 (2011)
DOI:10.1093/hmg/ddr158
文献    
  著者
Mir A, Sritharan K, Mittal K, Vasli N, Araujo C, Jamil T, Rafiq MA, Anwar Z, Mikhailov A, Rauf S, Mahmood H, Shakoor A, Ali S, So J, Naeem F, Ayub M, Vincent JB
  タイトル
Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family.
  雑誌
Hum Genet 133:975-84 (2014)
DOI:10.1007/s00439-014-1438-0
文献    
  著者
Law R, Dixon-Salazar T, Jerber J, Cai N, Abbasi AA, Zaki MS, Mittal K, Gabriel SB, Rafiq MA, Khan V, Nguyen M, Ali G, Copeland B, Scott E, Vasli N, Mikhailov A, Khan MN, Andrade DM, Ayaz M, Ansar M, Ayub M, Vincent JB, Gleeson JG
  タイトル
Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.
  雑誌
Am J Hum Genet 95:721-8 (2014)
DOI:10.1016/j.ajhg.2014.10.016
文献    
  著者
Ahmed I, Buchert R, Zhou M, Jiao X, Mittal K, Sheikh TI, Scheller U, Vasli N, Rafiq MA, Brohi MQ, Mikhailov A, Ayaz M, Bhatti A, Sticht H, Nasr T, Carter MT, Uebe S, Reis A, Ayub M, John P, Kiledjian M, Vincent JB, Jamra RA
  タイトル
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.
  雑誌
Hum Mol Genet 24:3172-80 (2015)
DOI:10.1093/hmg/ddv069
文献    
  著者
Heidari A, Tongsook C, Najafipour R, Musante L, Vasli N, Garshasbi M, Hu H, Mittal K, McNaughton AJ, Sritharan K, Hudson M, Stehr H, Talebi S, Moradi M, Darvish H, Arshad Rafiq M, Mozhdehipanah H, Rashidinejad A, Samiei S, Ghadami M, Windpassinger C, Gillessen-Kaesbach G, Tzschach A, Ahmed I, Mikhailov A, Stavropoulos DJ, Carter MT, Keshavarz S, Ayub M, Najmabadi H, Liu X, Ropers HH, Macheroux P, Vincent JB
  タイトル
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
  雑誌
Hum Mol Genet 24:5697-710 (2015)
DOI:10.1093/hmg/ddv286
文献    
  著者
Anazi S, Shamseldin HE, AlNaqeb D, Abouelhoda M, Monies D, Salih MA, Al-Rubeaan K, Alkuraya FS
  タイトル
A null mutation in TNIK defines a novel locus for intellectual disability.
  雑誌
Hum Genet 135:773-8 (2016)
DOI:10.1007/s00439-016-1671-9
文献    
  著者
Shaheen R, Han L, Faqeih E, Ewida N, Alobeid E, Phizicky EM, Alkuraya FS
  タイトル
A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.
  雑誌
Hum Genet 135:707-13 (2016)
DOI:10.1007/s00439-016-1665-7
文献    
  著者
Pak C, Garshasbi M, Kahrizi K, Gross C, Apponi LH, Noto JJ, Kelly SM, Leung SW, Tzschach A, Behjati F, Abedini SS, Mohseni M, Jensen LR, Hu H, Huang B, Stahley SN, Liu G, Williams KR, Burdick S, Feng Y, Sanyal S, Bassell GJ, Ropers HH, Najmabadi H, Corbett AH, Moberg KH, Kuss AW
  タイトル
Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans.
  雑誌
Proc Natl Acad Sci U S A 108:12390-5 (2011)
DOI:10.1073/pnas.1107103108
文献    
  著者
Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, Rusch H, Vaz F, Lucato LT, Zatz M, Kok F, Santos S
  タイトル
A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability.
  雑誌
Mol Psychiatry 21:1125-9 (2016)
DOI:10.1038/mp.2015.150
文献    
  著者
Alazami AM, Hijazi H, Al-Dosari MS, Shaheen R, Hashem A, Aldahmesh MA, Mohamed JY, Kentab A, Salih MA, Awaji A, Masoodi TA, Alkuraya FS
  タイトル
Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.
  雑誌
J Med Genet 50:425-30 (2013)
DOI:10.1136/jmedgenet-2012-101378
文献    
  著者
Harlalka GV, Baple EL, Cross H, Kuhnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, Mackay DJ, Chioza BA, Scheffner M, Rosa JL, Crosby AH
  タイトル
Mutation of HERC2 causes developmental delay with Angelman-like features.
  雑誌
J Med Genet 50:65-73 (2013)
DOI:10.1136/jmedgenet-2012-101367
文献    
  著者
Baple EL, Maroofian R, Chioza BA, Izadi M, Cross HE, Al-Turki S, Barwick K, Skrzypiec A, Pawlak R, Wagner K, Coblentz R, Zainy T, Patton MA, Mansour S, Rich P, Qualmann B, Hurles ME, Kessels MM, Crosby AH
  タイトル
Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.
  雑誌
Am J Hum Genet 94:87-94 (2014)
DOI:10.1016/j.ajhg.2013.10.001
文献    
  著者
Bernkopf M, Webersinke G, Tongsook C, Koyani CN, Rafiq MA, Ayaz M, Muller D, Enzinger C, Aslam M, Naeem F, Schmidt K, Gruber K, Speicher MR, Malle E, Macheroux P, Ayub M, Vincent JB, Windpassinger C, Duba HC
  タイトル
Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
  雑誌
Hum Mol Genet 23:4015-23 (2014)
DOI:10.1093/hmg/ddu115
文献    
  著者
Iqbal Z, Willemsen MH, Papon MA, Musante L, Benevento M, Hu H, Venselaar H, Wissink-Lindhout WM, Vulto-van Silfhout AT, Vissers LE, de Brouwer AP, Marouillat S, Wienker TF, Ropers HH, Kahrizi K, Nadif Kasri N, Najmabadi H, Laumonnier F, Kleefstra T, van Bokhoven H
  タイトル
Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.
  雑誌
Am J Hum Genet 96:386-96 (2015)
DOI:10.1016/j.ajhg.2015.01.010
文献    
  著者
Ouyang Q, Nakayama T, Baytas O, Davidson SM, Yang C, Schmidt M, Lizarraga SB, Mishra S, Ei-Quessny M, Niaz S, Gul Butt M, Imran Murtaza S, Javed A, Chaudhry HR, Vaughan DJ, Hill RS, Partlow JN, Yoo SY, Lam AT, Nasir R, Al-Saffar M, Barkovich AJ, Schwede M, Nagpal S, Rajab A, DeBerardinis RJ, Housman DE, Mochida GH, Morrow EM
  タイトル
Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.
  雑誌
Proc Natl Acad Sci U S A 113:E5598-607 (2016)
DOI:10.1073/pnas.1609221113
文献    
  著者
Rafiullah R, Aslamkhan M, Paramasivam N, Thiel C, Mustafa G, Wiemann S, Schlesner M, Wade RC, Rappold GA, Berkel S
  タイトル
Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
  雑誌
J Med Genet 53:138-44 (2016)
DOI:10.1136/jmedgenet-2015-103179
文献    
  著者
Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, Murakami Y
  タイトル
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
  雑誌
Am J Hum Genet 98:615-26 (2016)
DOI:10.1016/j.ajhg.2016.02.007
文献    
  著者
Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Caglayan AO, Azam M, Sultan T, Froukh T, Reis A, Popp B, Ahmed I, John P, Ayub M, Ben-Omran T, Vincent JB, Gleeson JG, Abou Jamra R
  タイトル
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.
  雑誌
Am J Hum Genet 99:912-916 (2016)
DOI:10.1016/j.ajhg.2016.07.019
文献    
  著者
Tawamie H, Martianov I, Wohlfahrt N, Buchert R, Mengus G, Uebe S, Janiri L, Hirsch FW, Schumacher J, Ferrazzi F, Sticht H, Reis A, Davidson I, Colombo R, Abou Jamra R
  タイトル
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.
  雑誌
Am J Hum Genet 100:555-561 (2017)
DOI:10.1016/j.ajhg.2017.01.032

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