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

Am J Med Genet. 1992;43(1-2):436-42. doi: 10.1002/ajmg.1320430166.

Abstract

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 DXYS1 with a peak LOD score of 2.14 at a theta 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 DXYS1 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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Chromosome Mapping
  • DNA Probes
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Intellectual Disability / genetics*
  • Lod Score
  • Male
  • Pedigree
  • X Chromosome*

Substances

  • DNA Probes
  • Genetic Markers