| H00480 | |
| H番号 | H00480 |
| 名称 | X 連鎖知的発達障害; X 連鎖精神遅滞 |
| 概要 | X-linked intellectual developmental disorder (XLID), formerly known as X-linked mental retardation, is an inherited condition that causes failure to develop cognitive abilities because of mutations in several genes on the X chromosome. XLID is subdivided into syndromic and non-syndromic forms, depending on whether further abnormalities are found on physical examination, laboratory investigation and brain imaging. |
| カテゴリ | 精神及び行動の障害 |
| ネットワーク | nt06512(H00480) Chromosome cohesion and segregation nt06523(H00480) Epigenetic regulation by Polycomb complexes nt06525(H00480) Ferroptosis |
| 病因遺伝子 | (XLID1) IQSEC2 [HSA:23096] [KO:K12495] (XLID3) HCFC1 [HSA:3054] [KO:K14966] (XLID9) FTSJ1 [HSA:24140] [KO:K14864] (XLID12) THOC2 [HSA:57187] [KO:K12879] (XLID19) RPS6KA3 [HSA:6197] [KO:K04373] (XLID21) IL1RAPL1 [HSA:11141] [KO:K05170] (XLID29) ARX [HSA:170302] [KO:K09452] (XLID30) PAK3 [HSA:5063] [KO:K05733] (XLID41) GDI1 [HSA:2664] [KO:K17255] (XLID58) TSPAN7 [HSA:7102] [KO:K06571] (XLID63) ACSL4 [HSA:2182] [KO:K01897] (XLID72) RAB39B [HSA:116442] [KO:K07925] (XLID90) DLG3 [HSA:1741] [KO:K21098] (XLID93) BRWD3 [HSA:254065] [KO:K11798] (XLID96) SYP [HSA:6855] (XLID97) ZNF711 [HSA:7552] [KO:K24376] (XLID98) NEXMIF [HSA:340533] [KO:K25862] (XLID99) USP9X [HSA:8239] [KO:K11840] (XLID100) KIF4A [HSA:24137] [KO:K10395] (XLID101) MID2 [HSA:11043] [KO:K10647] (XLID103) KLHL15 [HSA:80311] [KO:K10452] (XLID104) FRMPD4 [HSA:9758] [KO:K23956] (XLID105) USP27X [HSA:389856] [KO:K11366] (XLID106) OGT [HSA:8473] [KO:K09667] (XLID107) STEEP1 [HSA:63932] [KO:K24996] (XLID108) SLC9A7 [HSA:84679] [KO:K12041] (XLID109) AFF2 [HSA:2334] [KO:K15194] (XLID110) FGF13 [HSA:2258] [KO:K22413] (XLID111) SLITRK2 [HSA:84631] [KO:K25833] (XLID112) ZMYM3 [HSA:9203] [KO:K24675] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 6A00 ICD-10: F78.9 MeSH: C564490 OMIM: 309530 309541 309549 300957 300844 300143 300419 300558 300849 300436 300210 300387 300271 300850 300659 300802 300803 300912 300919 300923 300982 300983 300984 300997 301013 301024 309548 301095 301107 301111 |
| 文献 | PMID:15690397 著者 Renieri A, Pescucci C, Longo I, Ariani F, Mari F, Meloni I タイトル Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view. 雑誌 J Cell Physiol 204:8-20 (2005) DOI:10.1002/jcp.20296 PMID:16118346 著者 Raymond FL タイトル X linked mental retardation: a clinical guide. 雑誌 J Med Genet 43:193-200 (2006) DOI:10.1136/jmg.2005.033043 PMID:15630421 著者 Ropers HH, Hamel BC タイトル X-linked mental retardation. 雑誌 Nat Rev Genet 6:46-57 (2005) DOI:10.1038/nrg1501 PMID:20473311 (XLID1) 著者 Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, Boyle J, Shaw M, Gardner A, Proos A, Puusepp H, Raymond FL, Schwartz CE, Stevenson RE, Turner G, Field M, Walikonis RS, Harvey RJ, Hackett A, Futreal PA, Stratton MR, Gecz J タイトル Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 雑誌 Nat Genet 42:486-8 (2010) DOI:10.1038/ng.588 PMID:23000143 (XLID3) 著者 Huang L, Jolly LA, Willis-Owen S, Gardner A, Kumar R, Douglas E, Shoubridge C, Wieczorek D, Tzschach A, Cohen M, Hackett A, Field M, Froyen G, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Corbett MA, Gecz J タイトル A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. 雑誌 Am J Hum Genet 91:694-702 (2012) DOI:10.1016/j.ajhg.2012.08.011 PMID:15162322 (XLID9) 著者 Freude K, Hoffmann K, Jensen LR, Delatycki MB, des Portes V, Moser B, Hamel B, van Bokhoven H, Moraine C, Fryns JP, Chelly J, Gecz J, Lenzner S, Kalscheuer VM, Ropers HH タイトル Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. 雑誌 Am J Hum Genet 75:305-9 (2004) DOI:10.1086/422507 PMID:26166480 (XLID12) 著者 Kumar R, Corbett MA, van Bon BW, Woenig JA, Weir L, Douglas E, Friend KL, Gardner A, Shaw M, Jolly LA, Tan C, Hunter MF, Hackett A, Field M, Palmer EE, Leffler M, Rogers C, Boyle J, Bienek M, Jensen C, Van Buggenhout G, Van Esch H, Hoffmann K, Raynaud M, Zhao H, Reed R, Hu H, Haas SA, Haan E, Kalscheuer VM, Gecz J タイトル THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. 雑誌 Am J Hum Genet 97:302-10 (2015) DOI:10.1016/j.ajhg.2015.05.021 PMID:10319851 (XLID19) 著者 Merienne K, Jacquot S, Pannetier S, Zeniou M, Bankier A, Gecz J, Mandel JL, Mulley J, Sassone-Corsi P, Hanauer A タイトル A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. 雑誌 Nat Genet 22:13-4 (1999) DOI:10.1038/8719 PMID:10471494 (XLID21) 著者 Carrie A, Jun L, Bienvenu T, Vinet MC, McDonell N, Couvert P, Zemni R, Cardona A, Van Buggenhout G, Frints S, Hamel B, Moraine C, Ropers HH, Strom T, Howell GR, Whittaker A, Ross MT, Kahn A, Fryns JP, Beldjord C, Marynen P, Chelly J タイトル A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. 雑誌 Nat Genet 23:25-31 (1999) DOI:10.1038/12623 PMID:11971879 (XLID29) 著者 Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, Ben Jeema L, Zemni R, Vinet MC, Francis F, Couvert P, Gomot M, Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki K, Chaabouni H, Fryns JP, Desportes V, Beldjord C, Chelly J タイトル ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. 雑誌 Hum Mol Genet 11:981-91 (2002) DOI:10.1093/hmg/11.8.981 PMID:9731525 (XLID30) 著者 Allen KM, Gleeson JG, Bagrodia S, Partington MW, MacMillan JC, Cerione RA, Mulley JC, Walsh CA タイトル PAK3 mutation in nonsyndromic X-linked mental retardation. 雑誌 Nat Genet 20:25-30 (1998) DOI:10.1038/1675 PMID:9620768 (XLID41) 著者 D'Adamo P, Menegon A, Lo Nigro C, Grasso M, Gulisano M, Tamanini F, Bienvenu T, Gedeon AK, Oostra B, Wu SK, Tandon A, Valtorta F, Balch WE, Chelly J, Toniolo D タイトル Mutations in GDI1 are responsible for X-linked non-specific mental retardation. 雑誌 Nat Genet 19:134-9 (1998) DOI:10.1038/487 PMID:10655063 (XLID58) 著者 Zemni R, Bienvenu T, Vinet MC, Sefiani A, Carrie A, Billuart P, McDonell N, Couvert P, Francis F, Chafey P, Fauchereau F, Friocourt G, des Portes V, Cardona A, Frints S, Meindl A, Brandau O, Ronce N, Moraine C, van Bokhoven H, Ropers HH, Sudbrak R, Kahn A, Fryns JP, Beldjord C, Chelly J タイトル A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. 雑誌 Nat Genet 24:167-70 (2000) DOI:10.1038/72829 PMID:11889465 (XLID63) 著者 Meloni I, Muscettola M, Raynaud M, Longo I, Bruttini M, Moizard MP, Gomot M, Chelly J, des Portes V, Fryns JP, Ropers HH, Magi B, Bellan C, Volpi N, Yntema HG, Lewis SE, Schaffer JE, Renieri A タイトル FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. 雑誌 Nat Genet 30:436-40 (2002) DOI:10.1038/ng857 PMID:20159109 (XLID72) 著者 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 タイトル Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. 雑誌 Am J Hum Genet 86:185-95 (2010) DOI:10.1016/j.ajhg.2010.01.011 PMID:15185169 (XLID90) 著者 Tarpey P, Parnau J, Blow M, Woffendin H, Bignell G, Cox C, Cox J, Davies H, Edkins S, Holden S, Korny A, Mallya U, Moon J, O'Meara S, Parker A, Stephens P, Stevens C, Teague J, Donnelly A, Mangelsdorf M, Mulley J, Partington M, Turner G, Stevenson R, Schwartz C, Young I, Easton D, Bobrow M, Futreal PA, Stratton MR, Gecz J, Wooster R, Raymond FL タイトル Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. 雑誌 Am J Hum Genet 75:318-24 (2004) DOI:10.1086/422703 PMID:17668385 (XLID93) 著者 Field M, Tarpey PS, Smith R, Edkins S, O'Meara S, Stevens C, Tofts C, Teague J, Butler A, Dicks E, Barthorpe S, Buck G, Cole J, Gray K, Halliday K, Hills K, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Varian J, West S, Widaa S, Mallya U, Wooster R, Moon J, Luo Y, Hughes H, Shaw M, Friend KL, Corbett M, Turner G, Partington M, Mulley J, Bobrow M, Schwartz C, Stevenson R, Gecz J, Stratton MR, Futreal PA, Raymond FL タイトル Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. 雑誌 Am J Hum Genet 81:367-74 (2007) DOI:10.1086/520677 PMID:19377476 (XLID96 XLID97) 著者 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 タイトル A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 雑誌 Nat Genet 41:535-43 (2009) DOI:10.1038/ng.367 PMID:23615299 (XLID98) 著者 Van Maldergem L, Hou Q, Kalscheuer VM, Rio M, Doco-Fenzy M, Medeira A, de Brouwer AP, Cabrol C, Haas SA, Cacciagli P, Moutton S, Landais E, Motte J, Colleaux L, Bonnet C, Villard L, Dupont J, Man HY タイトル Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth. 雑誌 Hum Mol Genet 22:3306-14 (2013) DOI:10.1093/hmg/ddt187 PMID:24607389 (XLID99) 著者 Homan CC, Kumar R, Nguyen LS, Haan E, Raymond FL, Abidi F, Raynaud M, Schwartz CE, Wood SA, Gecz J, Jolly LA タイトル Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. 雑誌 Am J Hum Genet 94:470-8 (2014) DOI:10.1016/j.ajhg.2014.02.004 PMID:24812067 (XLID100) 著者 Willemsen MH, Ba W, Wissink-Lindhout WM, de Brouwer AP, Haas SA, Bienek M, Hu H, Vissers LE, van Bokhoven H, Kalscheuer V, Nadif Kasri N, Kleefstra T タイトル Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. 雑誌 J Med Genet 51:487-94 (2014) DOI:10.1136/jmedgenet-2013-102182 PMID:24115387 (XLID101) 著者 Geetha TS, Michealraj KA, Kabra M, Kaur G, Juyal RC, Thelma BK タイトル Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India. 雑誌 Hum Mutat 35:41-4 (2014) DOI:10.1002/humu.22453 PMID:24817631 (XLID103) 著者 Mignon-Ravix C, Cacciagli P, Choucair N, Popovici C, Missirian C, Milh M, Megarbane A, Busa T, Julia S, Girard N, Badens C, Sigaudy S, Philip N, Villard L タイトル Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes. 雑誌 Am J Med Genet A 164A:1991-7 (2014) DOI:10.1002/ajmg.a.36602 PMID:25644381 (XLID104 XLID105) 著者 Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bommel A, Goke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Muller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bielenska A, Ousager LB, Wieacker P, Rodriguez Criado G, Bondeson ML, Anneren G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM タイトル X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 雑誌 Mol Psychiatry 21:133-48 (2016) DOI:10.1038/mp.2014.193 PMID:28302723 (XLID106) 著者 Vaidyanathan K, Niranjan T, Selvan N, Teo CF, May M, Patel S, Weatherly B, Skinner C, Opitz J, Carey J, Viskochil D, Gecz J, Shaw M, Peng Y, Alexov E, Wang T, Schwartz C, Wells L タイトル Identification and characterization of a missense mutation in the O-linked beta-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability. 雑誌 J Biol Chem 292:8948-8963 (2017) DOI:10.1074/jbc.M116.771030 PMID:29374277 (XLID107) 著者 Verkerk AJMH, Zeidler S, Breedveld G, Overbeek L, Huigh D, Koster L, van der Linde H, de Esch C, Severijnen LA, de Vries BBA, Swagemakers SMA, Willemsen R, Hoogeboom AJM, van der Spek PJ, Oostra BA タイトル CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability. 雑誌 Eur J Hum Genet 26:552-560 (2018) DOI:10.1038/s41431-017-0051-9 PMID:30335141 (XLID108) 著者 Khayat W, Hackett A, Shaw M, Ilie A, Dudding-Byth T, Kalscheuer VM, Christie L, Corbett MA, Juusola J, Friend KL, Kirmse BM, Gecz J, Field M, Orlowski J タイトル A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. 雑誌 Hum Mol Genet 28:598-614 (2019) DOI:10.1093/hmg/ddy371 PMID:21739600 (XLID109) 著者 Stettner GM, Shoukier M, Hoger C, Brockmann K, Auber B タイトル Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion. 雑誌 Am J Med Genet A 155A:2003-7 (2011) DOI:10.1002/ajmg.a.34122 PMID:34184986 (XLID110) 著者 Pan X, Zhao J, Zhou Z, Chen J, Yang Z, Wu Y, Bai M, Jiao Y, Yang Y, Hu X, Cheng T, Lu Q, Wang B, Li CL, Lu YJ, Diao L, Zhong YQ, Pan J, Zhu J, Xiao HS, Qiu ZL, Li J, Wang Z, Hui J, Bao L, Zhang X タイトル 5'-UTR SNP of FGF13 causes translational defect and intellectual disability. 雑誌 Elife 10:63021 (2021) DOI:10.7554/eLife.63021 PMID:35840571 (XLID111) 著者 El Chehadeh S, Han KA, Kim D, Jang G, Bakhtiari S, Lim D, Kim HY, Kim J, Kim H, Wynn J, Chung WK, Vitiello G, Cutcutache I, Page M, Gecz J, Harper K, Han AR, Kim HM, Wessels M, Bayat A, Jaen AF, Selicorni A, Maitz S, de Brouwer APM, Silfhout AV, Armstrong M, Symonds J, Kury S, Isidor B, Cogne B, Nizon M, Feger C, Muller J, Torti E, Grange DK, Willems M, Kruer MC, Ko J, Piton A, Um JW タイトル SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice. 雑誌 Nat Commun 13:4112 (2022) DOI:10.1038/s41467-022-31566-z PMID:24721225 (XLID112) 著者 Philips AK, Siren A, Avela K, Somer M, Peippo M, Ahvenainen M, Doagu F, Arvio M, Kaariainen H, Van Esch H, Froyen G, Haas SA, Hu H, Kalscheuer VM, Jarvela I タイトル X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. 雑誌 Orphanet J Rare Dis 9:49 (2014) DOI:10.1186/1750-1172-9-49 |