レンペニング症候群 [DS:H01913]
クリスチャンソン症候群 [DS:H01914]
Borjeson-Forssman-Lehmann 症候群 [DS:H01915]
MRX Stocco dos Santos 型 [DS:H01916]
CK 症候群 [DS:H01917]
Proud 症候群 [DS:H01919]
Partington 症候群 [DS:H01920]
MICPCH 症候群 [DS:H01921]
MEHMO 症候群 [DS:H02195]
X 連鎖性クレアチン欠乏症候群 [DS:H02196]
メチルマロン酸血症およびホモシステイン血症, cblX 型 [DS:H02222]
MRX Turner 型 (MRXST)
Siderius 型 (MRXSSD)
Cabezas 型 (MRXSC)
Raymond 型 (MRXSR)
Hedera 型 (MRXSH)
Claes-Jencen 型 (MRXSCJ)
Wu 型 (MRXSW)
Bain 型 (MRXSB)
Houge 型 (MRXSHG)
Nascimento 型 (MRXSN)
Basilicata-Akhtar 型 (MRXSBA)
Armfield 型 (MRXSA)
Hackman-Di Donato 型 (MRXSHD)
Paganini-Miozzo 型 (MRXSPM)
Van Esch-O'Driscoll 型 (VEODS)
FRAXE 型
汎下垂体機能低下症を伴う MRX (MRGH)
小脳低形成を伴う MRX (MRX60)
Raynaud-Claes 症候群 (MRXSRC)
Snijders Blok 型 (MRXSSB)
Pilorge 型 (MRXSP)
Tonne-Kalscheuer 症候群 (TOKAS)
Pettigrew 症候群 (PGS)

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

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

Am J Hum Genet 82:432-43 (2008)
DOI:10.1016/j.ajhg.2007.11.002

Qiu J, Shi G, Jia Y, Li J, Wu M, Li J, Dong S, Wong J

The X-linked mental retardation gene PHF8 is a histone demethylase involved in neuronal differentiation.

Cell Res 20:908-18 (2010)
DOI:10.1038/cr.2010.81

Nakagawa T, Xiong Y

X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression.

Mol Cell 43:381-91 (2011)
DOI:10.1016/j.molcel.2011.05.033

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

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.

Am J Hum Genet 80:982-7 (2007)
DOI:10.1086/513609

Ramser J, Abidi FE, Burckle CA, Lenski C, Toriello H, Wen G, Lubs HA, Engert S, Stevenson RE, Meindl A, Schwartz CE, Nguyen G

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.

Hum Mol Genet 14:1019-27 (2005)
DOI:10.1093/hmg/ddi094

Santos-Reboucas CB, Fintelman-Rodrigues N, Jensen LR, Kuss AW, Ribeiro MG, Campos M Jr, Santos JM, Pimentel MM

A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay.

Neurosci Lett 498:67-71 (2011)
DOI:10.1016/j.neulet.2011.04.065

Bonnet C, Leheup B, Beri M, Philippe C, Gregoire MJ, Jonveaux P

Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation.

Am J Med Genet A 149A:1280-9 (2009)
DOI:10.1002/ajmg.a.32858

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

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.

Am J Hum Genet 99:728-734 (2016)
DOI:10.1016/j.ajhg.2016.06.028

Damiano JA, Burgess R, Kivity S, Lerman-Sagie T, Afawi Z, Scheffer IE, Berkovic SF, Hildebrand MS

Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum.

Epilepsia 58:e40-e43 (2017)
DOI:10.1111/epi.13666

Nascimento RM, Otto PA, de Brouwer AP, Vianna-Morgante AM

UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.

Am J Hum Genet 79:549-55 (2006)
DOI:10.1086/507047

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

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.

Nat Genet 50:1442-1451 (2018)
DOI:10.1038/s41588-018-0220-y

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

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.

Nat Commun 11:3698 (2020)
DOI:10.1038/s41467-020-17452-6

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

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.

Am J Hum Genet 105:987-995 (2019)
DOI:10.1016/j.ajhg.2019.09.009

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

A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins.

Clin Genet 95:368-374 (2019)
DOI:10.1111/cge.13485

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

Defective DNA Polymerase alpha-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.

Am J Hum Genet 104:957-967 (2019)
DOI:10.1016/j.ajhg.2019.03.006

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

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.

Am J Hum Genet 71:1450-5 (2002)
DOI:10.1086/344661

Al-Owain M, Kaya N, Al-Zaidan H, Al-Hashmi N, Al-Bakheet A, Al-Muhaizea M, Chedrawi A, Basran RK, Milunsky A

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Clin Genet 79:363-70 (2011)
DOI:10.1111/j.1399-0004.2010.01462.x

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

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.

Mol Psychiatry 23:222-230 (2018)
DOI:10.1038/mp.2016.135

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

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 97:343-52 (2015)
DOI:10.1016/j.ajhg.2015.07.004

Pilorge M, Fassier C, Le Corronc H, Potey A, Bai J, De Gois S, Delaby E, Assouline B, Guinchat V, Devillard F, Delorme R, Nygren G, Rastam M, Meier JC, Otani S, Cheval H, James VM, Topf M, Dear TN, Gillberg C, Leboyer M, Giros B, Gautron S, Hazan J, Harvey RJ, Legendre P, Betancur C

Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism.

Mol Psychiatry 21:936-45 (2016)
DOI:10.1038/mp.2015.139

Tonne E, Holdhus R, Stansberg C, Stray-Pedersen A, Petersen K, Brunner HG, Gilissen C, Hoischen A, Prescott T, Steen VM, Fiskerstrand T

Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.

Eur J Hum Genet 23:1652-6 (2015)
DOI:10.1038/ejhg.2015.30

Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Levy N, Ledbetter DH, Dobyns WB, Villard L

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).

Eur J Hum Genet 22:363-8 (2014)
DOI:10.1038/ejhg.2013.135

Castro NH, dos Santos RC, Nelson R, Becak W, Hane B, Lindsey CJ, Lubs HA, Stevenson RE, Schwartz CE

Shashi XLMR syndrome: report of a second family.

Am J Med Genet A 118A:49-51 (2003)
DOI:10.1002/ajmg.a.10888

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

MECP2 is highly mutated in X-linked mental retardation.

Hum Mol Genet 10:941-6 (2001)
DOI:10.1093/hmg/10.9.941

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

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.

Nat Genet 39:1127-33 (2007)
DOI:10.1038/ng2100

Takano K, Liu D, Tarpey P, Gallant E, Lam A, Witham S, Alexov E, Chaubey A, Stevenson RE, Schwartz CE, Board PG, Dulhunty AF

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.

Hum Mol Genet 21:4497-507 (2012)
DOI:10.1093/hmg/dds292

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

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.

Am J Hum Genet 97:922-32 (2015)
DOI:10.1016/j.ajhg.2015.11.005

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

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.

Nat Neurosci 18:1731-6 (2015)
DOI:10.1038/nn.4169

Brooks SS, Wall AL, Golzio C, Reid DW, Kondyles A, Willer JR, Botti C, Nicchitta CV, Katsanis N, Davis EE

A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.

Genetics 198:723-33 (2014)
DOI:10.1534/genetics.114.168211

Shepherdson JL, Hutchison K, Don DW, McGillivray G, Choi TI, Allan CA, Amor DJ, Banka S, Basel DG, Buch LD, Carere DA, Carroll R, Clayton-Smith J, Crawford A, Duno M, Faivre L, Gilfillan CP, Gold NB, Gripp KW, Hobson E, Holtz AM, Innes AM, Isidor B, Jackson A, Katsonis P, Amel Riazat Kesh L, Kury S, Lecoquierre F, Lockhart P, Maraval J, Matsumoto N, McCarrier J, McCarthy J, Miyake N, Moey LH, Nemeth AH, Ostergaard E, Patel R, Pope K, Posey JE, Schnur RE, Shaw M, Stolerman E, Taylor JP, Wadman E, Wakeling E, White SM, Wong LC, Lupski JR, Lichtarge O, Corbett MA, Gecz J, Nicolet CM, Farnham PJ, Kim CH, Shinawi M

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.

Am J Hum Genet 111:487-508 (2024)
DOI:10.1016/j.ajhg.2024.01.007

Reijnders MR, Zachariadis V, Latour B, Jolly L, Mancini GM, Pfundt R, Wu KM, van Ravenswaaij-Arts CM, Veenstra-Knol HE, Anderlid BM, Wood SA, Cheung SW, Barnicoat A, Probst F, Magoulas P, Brooks AS, Malmgren H, Harila-Saari A, Marcelis CM, Vreeburg M, Hobson E, Sutton VR, Stark Z, Vogt J, Cooper N, Lim JY, Price S, Lai AH, Domingo D, Reversade B, Gecz J, Gilissen C, Brunner HG, Kini U, Roepman R, Nordgren A, Kleefstra T

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

Am J Hum Genet 98:373-81 (2016)
DOI:10.1016/j.ajhg.2015.12.015