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

K. B. Jedele, V. V. Michels, D. J. Schaid, K. V. Schowalter, S. N. Thibodeau

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


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 θ 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.

Original languageEnglish (US)
Pages (from-to)436-442
Number of pages7
JournalAmerican journal of medical genetics
Issue number1-2
StatePublished - 1992


  • DXYS1
  • MRX
  • X-linked mental retardation
  • linkage

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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