MENTAL RETARDATION, X-LINKED

ABCD1, ACSL4, AFF2, AGTR2, AIFM1, ALG13, AMER1, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCAP31, BCOR, BRWD3, CASK, CCDC22, CDKL5, CLCN4, CLIC2, CNKSR2, CUL4B, DCX, DDX3X, DKC1, DLG3, EBP, EIF2S3, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, GDI1, GK, GPC3, GPKOW, GRIA3, HCCS, HCFC1, HDAC6, HDAC8, HMGB3, HNRNPH2, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IKBKG, IL1RAPL1, IQSEC2, KDM5C, KDM6A, KIF4A, KLF8, KLHL15, L1CAM, LAMP2, LAS1L, MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1, MID2, MSL3, MTM1, NAA10, NDP, NDUFA1, NEXMIF, NHS, NLGN3, NLGN4X, NONO, NSDHL, NXF5, OCRL, OFD1, OGT, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PIGA, PLP1, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RAB40AL, RBM10, RBMX, RLIM, RNF113A, RPL10, RPS6KA3, SHROOM4, SLC16A2, SLC25A5, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, SSR4, STAG2, SYN1, SYP, TAF1, THOC2, TIMM8A, TMLHE, TSPAN7, UBE2A, UPF3B, USP27X, USP9X, WDR45, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZMYM3, ZNF41, ZNF674, ZNF711, ZNF81

Description

Scientific background

In developmental disorders or intelligence impairment with IQ <70, it is long-known that males are more likely affected than females by a factor of 1.3-1.4:1. This is partially explained by X-linked genes whose variants can cause developmental disorders. The most common monogenic cause of a developmental disorder in males are variants in the FMR1 gene causing fragile X syndrome. Currently, there are more than 100 genes known whose variants cause developmental disorders, sometimes in combination with malformations, neurological or hematological abnormalities.

 

References

Piton et al. 2013, Am J Hum Genet 93:368

GENES

ABCD1, ACSL4, AFF2, AGTR2, AIFM1, ALG13, AMER1, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCAP31, BCOR, BRWD3, CASK, CCDC22, CDKL5, CLCN4, CLIC2, CNKSR2, CUL4B, DCX, DDX3X, DKC1, DLG3, EBP, EIF2S3, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, GDI1, GK, GPC3, GPKOW, GRIA3, HCCS, HCFC1, HDAC6, HDAC8, HMGB3, HNRNPH2, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IKBKG, IL1RAPL1, IQSEC2, KDM5C, KDM6A, KIF4A, KLF8, KLHL15, L1CAM, LAMP2, LAS1L, MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1, MID2, MSL3, MTM1, NAA10, NDP, NDUFA1, NEXMIF, NHS, NLGN3, NLGN4X, NONO, NSDHL, NXF5, OCRL, OFD1, OGT, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PIGA, PLP1, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RAB40AL, RBM10, RBMX, RLIM, RNF113A, RPL10, RPS6KA3, SHROOM4, SLC16A2, SLC25A5, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, SSR4, STAG2, SYN1, SYP, TAF1, THOC2, TIMM8A, TMLHE, TSPAN7, UBE2A, UPF3B, USP27X, USP9X, WDR45, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZMYM3, ZNF41, ZNF674, ZNF711, ZNF81

ASSOCIATED TESTS

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