Mental Retardation, X-Linked 2

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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

Proops et al. (1983) reported a Japanese family (family F) living in Hawaii with mental retardation in 3 generations. Affected males were mildly or moderately retarded, while a number of heterozygous females were mildly retarded. The affected males were relatively short with a large head, highly arched palate, square face, prominent ears, and large testicular volumes. Their speech was limited and characterized by repetitive phrases or inflections. Affected males and females were described as having a pleasant demeanor.

Mapping

Arveiler et al. (1987, 1988) performed linkage analysis on the family reported by Proops et al. (1983) and found linkage to Xp22.3-p22.2 near marker DXS85. Another family analyzed by Arveiler et al. (1987, 1988) suggested linkage to the Xq12-q13 region (MRX1; 309530).

From a study of the contiguous gene syndromes resulting from various deletions in the distal portion of Xp, Ballabio et al. (1989) suggested that there is a gene for X-linked mental retardation at Xp22.3.