Mental Retardation, X-Linked, Syndromic 7

Clinical Features

Ahmad et al. (1999) provided a full report of a large Pakistani family in which 10 males showed mental retardation, obesity, hypogonadism, and tapering fingers.

Mapping

By linkage analysis in a large Pakistani family with an X-linked mental retardation syndrome, Ahmad et al. (1999) mapped the disorder to the pericentromeric area with a maximum 2-point lod score of 3.86 at zero recombination with marker DXS1106. Reduced recombination events around the centromere prevented precise mapping of the gene. They commented on the X-linked syndromic mental retardation that is associated with gynecomastia and obesity (Wilson-Turner syndrome, or MRXS6; 309585). The MRXS7 candidate region overlaps that of the Wilson-Turner syndrome; however, gynecomastia was absent in the patients of Ahmad et al. (1999).

Lubs et al. (1999) used the symbol MRXS7 for the syndromic form of X-linked mental retardation mapped by FISH to Xp11.3-q22 by Ahmad et al. (1997).