KEGG   DISEASE: H00577Help
Entry
H00577                      Disease                                

Name
Syndromic X-linked mental retardation with epilepsy or seizures, including:
West syndrome (WS);
Partington syndrome (PRTS);
Proud syndrome (ACCAG);
XMRE;
MRXHF1;
XMR OPHN1-related (MRXSO) ;
XELBD;
XMR, Christianson type (MRXSC);
Creatine deficiency syndrome (XL-CDS);
Renpenning syndrome (RENS1);
Epilepsy and mental retardation limited to females (EFMR);
Periventricular nodular heterotopia (PVNH);
Hydrocephalus (XLH);
XMR, JARID1C related (MRXSJ);
BFLS;
CK syndrome (CKS);
MICPCH;
Rolandic epilepsy
Description
X-linked mental retardation (XMR) is an inherited condition that causes failure to develop cognitive abilities because of mutations in several genes on the X chromosome. XLMR is subdivided into syndromic and non-syndromic forms (NS-XLMR), depending on whether further abnormalities are found on physical examination, laboratory investigation and brain imaging. Epilepsy is often associated with MR. Although this does not always indicate that the two conditions share the same genetic defects, a genetic correlation between MR and epilepsy has been suggested in some diseases.
Category
Congenital disorder; Mental retardation; Epilepsy
BRITE hierarchy
Pathway
Neuroactive ligand-receptor interaction
MAPK signaling pathway
Axon guidance
Focal adhesion
Cell adhesion molecules (CAMs)
Retrograde endocannabinoid signaling
Glutamatergic synapse
Dopaminergic synapse
Long-term depression
Gene
(WS/PRTS/ACCAG) ARX [HSA:170302] [KO:K09452]
(XMRE) ATP6AP2 [HSA:10159]
(MRXHF1) ATRX [HSA:546] [KO:K10779]
(MRXSO) OPHN1 [HSA:4983]
(XELBD) SYN1 [HSA:6853]
(MRXSC) SLC9A6 [HSA:10479] [KO:K12041]
(XL-CDS) SLC6A8 [HSA:6535] [KO:K05039]
(RENS1) PQBP1 [HSA:10084] [KO:K12865]
(EFMR) PCDH19 [HSA:57526] [KO:K16499]
(PVNH) FLNA [HSA:2316] [KO:K04437]
(XLH) L1CAM [HSA:3897] [KO:K06550]
(MRXSJ) SMCX [HSA:8242] [KO:K11446]
(BFLS) PHF6 [HSA:84295]
(MRX72) RAB39B [HSA:116442] [KO:K07925]
(MRXSYP) SYP [HSA:6855]
(MRX91) ZDHHC15 [HSA:158866]
(MRXSW) GRIA3 [HSA:2892] [KO:K05199]
(Stocco dos Santos) SHROOM4 [HSA:57477]
(CKS) NSDHL [HSA:50814] [KO:K07748]
(MRXHF1) CASK [HSA:8573] [KO:K06103]
(Rolandic epilepsy) SRPX2 [HSA:27286]
Comment
XMR-hypotonic facies syndrome (MRXHF1) includes Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes.
XELBD: X-linked epilepsy with variable learning disabilities and behavior disorders
XMRE: XMR and epilepsy
MRXHF1: Mental retardation and microcephaly with pontine and cerebellar hypoplasia
BFLS: Boerjeson-Forssman syndrome
Other DBs
Reference
  Authors
Hirose S, Mitsudome A
  Title
X-linked mental retardation and epilepsy: pathogenetic significance of ARX mutations.
  Journal
Brain Dev 25:161-5 (2003)
Reference
  Authors
Shoubridge C, Fullston T, Gecz J
  Title
ARX spectrum disorders: making inroads into the molecular pathology.
  Journal
Hum Mutat 31:889-900 (2010)
Reference
PMID:15746149 (XMRE)
  Authors
Ramser J, Abidi FE, Burckle CA, Lenski C, Toriello H, Wen G, Lubs HA, Engert S, Stevenson RE, Meindl A, Schwartz CE, Nguyen G
  Title
A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.
  Journal
Hum Mol Genet 14:1019-27 (2005)
Reference
  Authors
Iwase S, Xiang B, Ghosh S, Ren T, Lewis PW, Cochrane JC, Allis CD, Picketts DJ, Patel DJ, Li H, Shi Y
  Title
ATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndrome.
  Journal
Nat Struct Mol Biol 18:769-76 (2011)
Reference
PMID:12805098 (MRXSO)
  Authors
Bergmann C, Zerres K, Senderek J, Rudnik-Schoneborn S, Eggermann T, Hausler M, Mull M, Ramaekers VT
  Title
Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia.
  Journal
Brain 126:1537-44 (2003)
Reference
PMID:14985377 (XELBD)
  Authors
Garcia CC, Blair HJ, Seager M, Coulthard A, Tennant S, Buddles M, Curtis A, Goodship JA
  Title
Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.
  Journal
J Med Genet 41:183-6 (2004)
Reference
PMID:18342287 (MRXSC)
  Authors
Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjoholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Stromme P
  Title
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
  Journal
Am J Hum Genet 82:1003-10 (2008)
Reference
  Authors
Schulze A
  Title
Creatine deficiency syndromes.
  Journal
Mol Cell Biochem 244:143-50 (2003)
Reference
  Authors
Germanaud D, Rossi M, Bussy G, Gerard D, Hertz-Pannier L, Blanchet P, Dollfus H, Giuliano F, Bennouna-Greene V, Sarda P, Sigaudy S, Curie A, Vincent MC, Touraine R, des Portes V
  Title
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.
  Journal
Clin Genet 79:225-35 (2011)
Reference
  Authors
Dibbens LM, Kneen R, Bayly MA, Heron SE, Arsov T, Damiano JA, Desai T, Gibbs J, McKenzie F, Mulley JC, Ronan A, Scheffer IE
  Title
Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.
  Journal
Neurology 76:1514-9 (2011)
Reference
  Authors
Masurel-Paulet A, Haan E, Thompson EM, Goizet C, Thauvin-Robinet C, Tai A, Kennedy D, Smith G, Khong TY, Sole G, Guerineau E, Coupry I, Huet F, Robertson S, Faivre L
  Title
Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.
  Journal
Eur J Med Genet 54:25-8 (2011)
Reference
  Authors
Jackson SR, Guner YS, Woo R, Randolph LM, Ford H, Shin CE
  Title
L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung's disease.
  Journal
Pediatr Surg Int 25:823-5 (2009)
Reference
  Authors
Ropers HH, Hamel BC
  Title
X-linked mental retardation.
  Journal
Nat Rev Genet 6:46-57 (2005)
Reference
  Authors
Gecz J, Turner G, Nelson J, Partington M
  Title
The Borjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).
  Journal
Eur J Hum Genet 14:1233-7 (2006)
Reference
  Authors
Giannandrea M, Bianchi V, Mignogna ML, Sirri A, Carrabino S, D'Elia E, Vecellio M, Russo S, Cogliati F, Larizza L, Ropers HH, Tzschach A, Kalscheuer V, Oehl-Jaschkowitz B, Skinner C, Schwartz CE, Gecz J, Van Esch H, Raynaud M, Chelly J, de Brouwer AP, Toniolo D, D'Adamo P
  Title
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
  Journal
Am J Hum Genet 86:185-95 (2010)
Reference
PMID:19377476 (SYP, ZNF711 and CASK)
  Authors
Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA, Stratton MR
  Title
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
  Journal
Nat Genet 41:535-43 (2009)
Reference
  Authors
Mansouri MR, Marklund L, Gustavsson P, Davey E, Carlsson B, Larsson C, White I, Gustavson KH, Dahl N
  Title
Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation.
  Journal
Eur J Hum Genet 13:970-7 (2005)
Reference
  Authors
Stocco dos Santos RC, Castro NH, Lillia Holmes A, Becak W, Tackels-Horne D, Lindsey CJ, Lubs HA, Stevenson RE, Schwartz CE
  Title
Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and  localization to Xp11.3-Xq21.3.
  Journal
Am J Med Genet A 118A:255-9 (2003)
Reference
  Authors
McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF
  Title
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
  Journal
Am J Hum Genet 87:905-14 (2010)
Reference
  Authors
Roll P, Rudolf G, Pereira S, Royer B, Scheffer IE, Massacrier A, Valenti MP, Roeckel-Trevisiol N, Jamali S, Beclin C, Seegmuller C, Metz-Lutz MN, Lemainque A, Delepine M, Caloustian C, de Saint Martin A, Bruneau N, Depetris D, Mattei MG, Flori E, Robaglia-Schlupp A, Levy N, Neubauer BA, Ravid R, Marescaux C, Berkovic SF, Hirsch E, Lathrop M, Cau P, Szepetowski P
  Title
SRPX2 mutations in disorders of language cortex and cognition.
  Journal
Hum Mol Genet 15:1195-207 (2006)

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