| H00658 | |
| H番号 | H00658 |
| 名称 | X 連鎖知的発達障害症候群; X連鎖精神遅滞症候群 |
| 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 or not. X-linked syndromic intellectual developmental disorder is characterized by recognizable dysmorphic features, neurological complications, and/or metabolic abnormalities. |
| カテゴリ | 精神及び行動の障害 |
| ネットワーク | nt06509(H00658) DNA replication |
| 病因遺伝子 | (MRXST) HUWE1 [HSA:10075] [KO:K10592] (MRXSSD) PHF8 [HSA:23133] [KO:K19415] (MRXSC) CUL4B [HSA:8450] [KO:K10609] (MRXSR) ZDHHC9 [HSA:51114] [KO:K25778] (MRXSH) ATP6AP2 [HSA:10159] [KO:K19514] (MRXSCJ) KDM5C [HSA:8242] [KO:K11446] (MRXSW) GRIA3 [HSA:2892] [KO:K05199] (MRXSB) HNRNPH2 [HSA:3188] [KO:K12898] (MRXSHG) CNKSR2 [HSA:22866] [KO:K17536] (MRXSN) UBE2A [HSA:7319] [KO:K10573] (MRXSBA) MSL3 [HSA:10943] [KO:K18403] (MRXSA) FAM50A [HSA:9130] [KO:K13119] (MRXSHD) NKAP [HSA:79576] [KO:K25931] (MRXSPM) HS6ST2 [HSA:90161] [KO:K08102] (VEODS) POLA1 [HSA:5422] [KO:K02320] (MRGH) SOX3 [HSA:6658] [KO:K09267] (MRX60) OPHN1 [HSA:4983] [KO:K20650] (MRXSRC) CLCN4 [HSA:1183] [KO:K05012] (MRXSSB) DDX3X [HSA:1654] [KO:K11594] (TOKAS) RLIM [HSA:51132] [KO:K16271] (PGS) AP1S2 [HSA:8905] [KO:K12394] (MRXS11) RBMX [HSA:27316] [KO:K12885] (MRXS13) MECP2 [HSA:4204] [KO:K11588] (MRXS14) UPF3B [HSA:65109] [KO:K14328] (MRXS32) CLIC2 [HSA:1193] [KO:K05022] (MRXS33) TAF1 [HSA:6872] [KO:K03125] (MRXS34) NONO [HSA:4841] [KO:K13214] (MRXS35) RPL10 [HSA:6134] [KO:K02866] |
| 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: D038901 OMIM: 309590 300263 300354 300799 300423 300534 300699 300986 301008 300860 301032 300261 301039 301025 301030 300123 300486 300114 300958 300978 304340 300238 300055 300260 300676 300886 300966 300967 300998 |
| 文献 | PMID:18252223 (HUWE1) 著者 Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, Bauters M, Govaerts K, Vandeleur L, Van Esch H, Chelly J, Sanlaville D, van Bokhoven H, Ropers HH, Laumonnier F, Ranieri E, Schwartz CE, Abidi F, Tarpey PS, Futreal PA, Whibley A, Raymond FL, Stratton MR, Fryns JP, Scott R, Peippo M, Sipponen M, Partington M, Mowat D, Field M, Hackett A, Marynen P, Turner G, Gecz J タイトル Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. 雑誌 Am J Hum Genet 82:432-43 (2008) DOI:10.1016/j.ajhg.2007.11.002 PMID:20548336 (PHF8) 著者 Qiu J, Shi G, Jia Y, Li J, Wu M, Li J, Dong S, Wong J タイトル The X-linked mental retardation gene PHF8 is a histone demethylase involved in neuronal differentiation. 雑誌 Cell Res 20:908-18 (2010) DOI:10.1038/cr.2010.81 PMID:21816345 (CUL4B) 著者 Nakagawa T, Xiong Y タイトル X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression. 雑誌 Mol Cell 43:381-91 (2011) DOI:10.1016/j.molcel.2011.05.033 PMID:17436253 (ZDHHC9) 著者 Raymond FL, Tarpey PS, Edkins S, Tofts C, O'Meara S, Teague J, Butler A, Stevens C, Barthorpe S, Buck G, Cole J, Dicks E, Gray K, Halliday K, Hills K, Hinton J, Jones D, Menzies A, Perry J, Raine K, Shepherd R, Small A, Varian J, Widaa S, Mallya U, Moon J, Luo Y, Shaw M, Boyle J, Kerr B, Turner G, Quarrell O, Cole T, Easton DF, Wooster R, Bobrow M, Schwartz CE, Gecz J, Stratton MR, Futreal PA タイトル Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. 雑誌 Am J Hum Genet 80:982-7 (2007) DOI:10.1086/513609 PMID:15746149 (ATP6AP2) 著者 Ramser J, Abidi FE, Burckle CA, Lenski C, Toriello H, Wen G, Lubs HA, Engert S, Stevenson RE, Meindl A, Schwartz CE, Nguyen G タイトル 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. 雑誌 Hum Mol Genet 14:1019-27 (2005) DOI:10.1093/hmg/ddi094 PMID:21575681 (KDM5C) 著者 Santos-Reboucas CB, Fintelman-Rodrigues N, Jensen LR, Kuss AW, Ribeiro MG, Campos M Jr, Santos JM, Pimentel MM タイトル A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay. 雑誌 Neurosci Lett 498:67-71 (2011) DOI:10.1016/j.neulet.2011.04.065 PMID:19449417 (GRIA3) 著者 Bonnet C, Leheup B, Beri M, Philippe C, Gregoire MJ, Jonveaux P タイトル Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation. 雑誌 Am J Med Genet A 149A:1280-9 (2009) DOI:10.1002/ajmg.a.32858 PMID:27545675 (HNRNPH2) 著者 Bain JM, Cho MT, Telegrafi A, Wilson A, Brooks S, Botti C, Gowans G, Autullo LA, Krishnamurthy V, Willing MC, Toler TL, Ben-Zev B, Elpeleg O, Shen Y, Retterer K, Monaghan KG, Chung WK タイトル Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females. 雑誌 Am J Hum Genet 99:728-734 (2016) DOI:10.1016/j.ajhg.2016.06.028 PMID:28098945 (CNKSR2) 著者 Damiano JA, Burgess R, Kivity S, Lerman-Sagie T, Afawi Z, Scheffer IE, Berkovic SF, Hildebrand MS タイトル Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum. 雑誌 Epilepsia 58:e40-e43 (2017) DOI:10.1111/epi.13666 PMID:16909393 (UBE2A) 著者 Nascimento RM, Otto PA, de Brouwer AP, Vianna-Morgante AM タイトル UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. 雑誌 Am J Hum Genet 79:549-55 (2006) DOI:10.1086/507047 PMID:30224647 (MSL3) 著者 Basilicata MF, Bruel AL, Semplicio G, Valsecchi CIK, Aktas T, Duffourd Y, Rumpf T, Morton J, Bache I, Szymanski WG, Gilissen C, Vanakker O, Ounap K, Mittler G, van der Burgt I, El Chehadeh S, Cho MT, Pfundt R, Tan TY, Kirchhoff M, Menten B, Vergult S, Lindstrom K, Reis A, Johnson DS, Fryer A, McKay V, Fisher RB, Thauvin-Robinet C, Francis D, Roscioli T, Pajusalu S, Radtke K, Ganesh J, Brunner HG, Wilson M, Faivre L, Kalscheuer VM, Thevenon J, Akhtar A タイトル De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 雑誌 Nat Genet 50:1442-1451 (2018) DOI:10.1038/s41588-018-0220-y PMID:32703943 (FAM50A) 著者 Lee YR, Khan K, Armfield-Uhas K, Srikanth S, Thompson NA, Pardo M, Yu L, Norris JW, Peng Y, Gripp KW, Aleck KA, Li C, Spence E, Choi TI, Kwon SJ, Park HM, Yu D, Do Heo W, Mooney MR, Baig SM, Wentzensen IM, Telegrafi A, McWalter K, Moreland T, Roadhouse C, Ramsey K, Lyons MJ, Skinner C, Alexov E, Katsanis N, Stevenson RE, Choudhary JS, Adams DJ, Kim CH, Davis EE, Schwartz CE タイトル Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. 雑誌 Nat Commun 11:3698 (2020) DOI:10.1038/s41467-020-17452-6 PMID:31587868 (NKAP) 著者 Fiordaliso SK, Iwata-Otsubo A, Ritter AL, Quesnel-Vallieres M, Fujiki K, Nishi E, Hancarova M, Miyake N, Morton JEV, Lee S, Hackmann K, Bando M, Masuda K, Nakato R, Arakawa M, Bhoj E, Li D, Hakonarson H, Takeda R, Harr M, Keena B, Zackai EH, Okamoto N, Mizuno S, Ko JM, Valachova A, Prchalova D, Vlckova M, Pippucci T, Seiler C, Choi M, Matsumoto N, Di Donato N, Barash Y, Sedlacek Z, Shirahige K, Izumi K タイトル Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment. 雑誌 Am J Hum Genet 105:987-995 (2019) DOI:10.1016/j.ajhg.2019.09.009 PMID:30471091 (HS6ST2) 著者 Paganini L, Hadi LA, Chetta M, Rovina D, Fontana L, Colapietro P, Bonaparte E, Pezzani L, Marchisio P, Tabano SM, Costanza J, Sirchia SM, Riboni L, Milani D, Miozzo M タイトル A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins. 雑誌 Clin Genet 95:368-374 (2019) DOI:10.1111/cge.13485 PMID:31006512 (POLA1) 著者 Van Esch H, Colnaghi R, Freson K, Starokadomskyy P, Zankl A, Backx L, Abramowicz I, Outwin E, Rohena L, Faulkner C, Leong GM, Newbury-Ecob RA, Challis RC, Ounap K, Jaeken J, Seuntjens E, Devriendt K, Burstein E, Low KJ, O'Driscoll M タイトル Defective DNA Polymerase alpha-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism. 雑誌 Am J Hum Genet 104:957-967 (2019) DOI:10.1016/j.ajhg.2019.03.006 PMID:12428212 (SOX3) 著者 Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP, Chelly J, Moraine C, Briault S タイトル Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. 雑誌 Am J Hum Genet 71:1450-5 (2002) DOI:10.1086/344661 PMID:20528889 (OPHN1) 著者 Al-Owain M, Kaya N, Al-Zaidan H, Al-Hashmi N, Al-Bakheet A, Al-Muhaizea M, Chedrawi A, Basran RK, Milunsky A タイトル Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance. 雑誌 Clin Genet 79:363-70 (2011) DOI:10.1111/j.1399-0004.2010.01462.x PMID:27550844 (CLCN4) 著者 Palmer EE, Stuhlmann T, Weinert S, Haan E, Van Esch H, Holvoet M, Boyle J, Leffler M, Raynaud M, Moraine C, van Bokhoven H, Kleefstra T, Kahrizi K, Najmabadi H, Ropers HH, Delgado MR, Sirsi D, Golla S, Sommer A, Pietryga MP, Chung WK, Wynn J, Rohena L, Bernardo E, Hamlin D, Faux BM, Grange DK, Manwaring L, Tolmie J, Joss S, Cobben JM, Duijkers FAM, Goehringer JM, Challman TD, Hennig F, Fischer U, Grimme A, Suckow V, Musante L, Nicholl J, Shaw M, Lodh SP, Niu Z, Rosenfeld JA, Stankiewicz P, Jentsch TJ, Gecz J, Field M, Kalscheuer VM タイトル De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. 雑誌 Mol Psychiatry 23:222-230 (2018) DOI:10.1038/mp.2016.135 PMID:26235985 (DDX3X) 著者 Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A, Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T タイトル Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. 雑誌 Am J Hum Genet 97:343-52 (2015) DOI:10.1016/j.ajhg.2015.07.004 PMID:25735484 (RLIM) 著者 Tonne E, Holdhus R, Stansberg C, Stray-Pedersen A, Petersen K, Brunner HG, Gilissen C, Hoischen A, Prescott T, Steen VM, Fiskerstrand T タイトル Syndromic X-linked intellectual disability segregating with a missense variant in RLIM. 雑誌 Eur J Hum Genet 23:1652-6 (2015) DOI:10.1038/ejhg.2015.30 PMID:23756445 (AP1S2) 著者 Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Levy N, Ledbetter DH, Dobyns WB, Villard L タイトル AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). 雑誌 Eur J Hum Genet 22:363-8 (2014) DOI:10.1038/ejhg.2013.135 PMID:12605440 (RBMX) 著者 Castro NH, dos Santos RC, Nelson R, Becak W, Hane B, Lindsey CJ, Lubs HA, Stevenson RE, Schwartz CE タイトル Shashi XLMR syndrome: report of a second family. 雑誌 Am J Med Genet A 118A:49-51 (2003) DOI:10.1002/ajmg.a.10888 PMID:11309367 (MECP2) 著者 Couvert P, Bienvenu T, Aquaviva C, Poirier K, Moraine C, Gendrot C, Verloes A, Andres C, Le Fevre AC, Souville I, Steffann J, des Portes V, Ropers HH, Yntema HG, Fryns JP, Briault S, Chelly J, Cherif B タイトル MECP2 is highly mutated in X-linked mental retardation. 雑誌 Hum Mol Genet 10:941-6 (2001) DOI:10.1093/hmg/10.9.941 PMID:17704778 (UPF3B) 著者 Tarpey PS, Raymond FL, Nguyen LS, Rodriguez J, Hackett A, Vandeleur L, Smith R, Shoubridge C, Edkins S, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Hills K, Jones D, Mironenko T, Perry J, Varian J, West S, Widaa S, Teague J, Dicks E, Butler A, Menzies A, Richardson D, Jenkinson A, Shepherd R, Raine K, Moon J, Luo Y, Parnau J, Bhat SS, Gardner A, Corbett M, Brooks D, Thomas P, Parkinson-Lawrence E, Porteous ME, Warner JP, Sanderson T, Pearson P, Simensen RJ, Skinner C, Hoganson G, Superneau D, Wooster R, Bobrow M, Turner G, Stevenson RE, Schwartz CE, Futreal PA, Srivastava AK, Stratton MR, Gecz J タイトル Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. 雑誌 Nat Genet 39:1127-33 (2007) DOI:10.1038/ng2100 PMID:22814392 (CLIC2) 著者 Takano K, Liu D, Tarpey P, Gallant E, Lam A, Witham S, Alexov E, Chaubey A, Stevenson RE, Schwartz CE, Board PG, Dulhunty AF タイトル An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. 雑誌 Hum Mol Genet 21:4497-507 (2012) DOI:10.1093/hmg/dds292 PMID:26637982 (TAF1) 著者 O'Rawe JA, Wu Y, Dorfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jimenez-Barron LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Den Hollander N, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie A, Riviere JB, Monaghan KG, Wang K, Davis EE, Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM, Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ タイトル TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. 雑誌 Am J Hum Genet 97:922-32 (2015) DOI:10.1016/j.ajhg.2015.11.005 PMID:26571461 (NONO) 著者 Mircsof D, Langouet M, Rio M, Moutton S, Siquier-Pernet K, Bole-Feysot C, Cagnard N, Nitschke P, Gaspar L, Znidaric M, Alibeu O, Fritz AK, Wolfer DP, Schroter A, Bosshard G, Rudin M, Koester C, Crestani F, Seebeck P, Boddaert N, Prescott K, Hines R, Moss SJ, Fritschy JM, Munnich A, Amiel J, Brown SA, Tyagarajan SK, Colleaux L タイトル Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects. 雑誌 Nat Neurosci 18:1731-6 (2015) DOI:10.1038/nn.4169 PMID:25316788 (RPL10) 著者 Brooks SS, Wall AL, Golzio C, Reid DW, Kondyles A, Willer JR, Botti C, Nicchitta CV, Katsanis N, Davis EE タイトル A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans. 雑誌 Genetics 198:723-33 (2014) DOI:10.1534/genetics.114.168211 |