Syndromic X-linked mental retardation

Renpenning syndrome [DS:H01913]
Christianson syndrome [DS:H01914]
Borjeson-Forssman-Lehmann syndrome [DS:H01915]
MRX Stocco dos Santos type [DS:H01916]
CK syndrome [DS:H01917]
Proud syndrome [DS:H01919]
Partington syndrome [DS:H01920]
MICPCH syndrome [DS:H01921]
MEHMO syndrome [DS:H02195]
X-linked creatine deficiency syndrome [DS:H02196]
Methylmalonic acidemia and homocysteinemia, cblX type [DS:H02222]
MRX Turner type (MRXST)
Siderius type (MRXSSD)
Cabezas type (MRXSC)
Raymond type (MRXSR)
Hedera type (MRXSH)
Claes-Jencen type (MRXSCJ)
Wu type (MRXSW)
Bain type (MRXSB)
Houge type (MRXSHG)
Nascimento type (MRXSN)
Basilicata-Akhtar type (MRXSBA)
Armfield type (MRXSA)
Hackman-Di Donato type (MRXSHD)
Paganini-Miozzo type (MRXSPM)
Van Esch-O'Driscoll type (MRXSVEOD)
FRAXE type
MRX with panhypopituitarism (MRGH)
MRX with cerebellar hypoplasia (MRX60)

X-linked mental retardation (MRX) 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, depending on whether further abnormalities are found or not. Syndromic XLMR is characterized by recognizable dysmorphic features, neurological complications, and/or metabolic abnormalities.

Mental and behavioural disorder

(MRXST) HUWE1 [HSA:10075] [KO:K10592]
(MRXSSD) PHF8 [HSA:23133] [KO:K19415]
(MRXSC) CUL4B [HSA:8450] [KO:K10609]
(MRXSR) ZDHHC9 [HSA:51114] [KO:K16675]
(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]
(MRXSPM) HS6ST2 [HSA:90161] [KO:K08102]
(MRXSVEOD) POLA1 [HSA:5422] [KO:K02320]
(FRAXE) AFF2 [HSA:2334] [KO:K15194]
(MRGH) SOX3 [HSA:6658] [KO:K09267]
(MRX60) OPHN1 [HSA:4983] [KO:K20650]
(MRXS5_21) AP1S [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]

PMID:15630421

Ropers HH, Hamel BC

X-linked mental retardation.

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

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

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

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

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PMID:25735484

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

Eur J Hum Genet 23:1652-6 (2015)
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Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.

Am J Hum Genet 86:185-95 (2010)
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PMID:17668385

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Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.

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PMID:16909393

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PMID:25316788

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

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

Nat Genet 50:1442-1451 (2018)
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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)
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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)
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PMID:30471091

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)
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PMID:23756445

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)
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