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Linkage of nonspecific X-linked mental retardation to Xq21.31

✍ Scribed by Jedele, Kerry B. ;Michels, Virginia V. ;Schaid, Daniel J. ;Schowalter, Karen V. ;Thibodeau, Stephen N.

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 513 KB
Volume: 43
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320430166

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✦ Synopsis

Mental retardation unassociated with the Fragile X syndrome accounts for up to 60% of patients with X-linked mental retardation. In this investigation, we report on a family with mild non-specific X-linked mental retardation (MRX) without other apparent phenotypic abnormalities.

Linkage analysis on 27 relatives using 18 polymorphic markers spanning the X-chromosome demonstrated close linkage to DXYSl with a peak LOD score of 2.14 at a 8 of 0. Numerous families with various types of MRX have now been studied by other investigators using molecular genetic techniques.

In addition to the family described in this report, a number of these have demonstrated linkage to the DXYSl locus. These data suggest that a gene for mental retardation may exist in the region of DXYS1. Alternatively, this area of the X-chromosome may harbor multiple different but closely linked genes which cause the various types of MRX.

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