Mental Retardation, X-Linked 23

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

IQSEC2, DLG3, GDI1, PAK3, ACSL4, ARX, MECP2, RPS6KA3, HCFC1, IL1RAPL1, TSPAN7, FTSJ1, ZNF41, DMD, CNKSR2, MID2, AGTR2, UPF3B, CXorf56, FRMPD4, ALG13, SLC9A7, RAB39B, PTCHD1, ZNF81, MED12, ZNF711, ARHGEF6, SYP, CLCN4, USP27X, USP9X, ABCG2, FRAXE, AFF2, STS, OPHN1, ALAS2, POU3F4, SERPINA4, RPS6KA6, THOC2, ANOS1, FMR1, ELK1

Drugs

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Clinical Features

Lehrke (1974) described a nonspecific form of X-linked mental retardation in a large kindred designated family 1. The pedigree was updated by Howard-Peebles and Roberts (1984). Affected males had lower verbal IQs than performance IQs. Several of the affected males had performance IQs above 80; however, because of the lower (12.3 points on average) verbal IQs, they were considered retarded.

Mapping

Gregg et al. (1996) mapped the gene for this form of X-linked mental retardation, designated MRX23, to Xq23-q24 by linkage studies in the large kindred (family 1) of Lehrke (1974). Multipoint linkage analysis gave a maximum lod score of 6.7 between markers DXS1220 and DXS424. Obligate carrier females were considered unaffected; however, IQs were not determined for these individuals.

Mapping to the same region of Xq are other families of nonspecific X-linked mental retardation, designated MRX27 (Gedeon et al., 1996), MRX35 (300957), and MRX80 (Verot et al., 2003).