X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3

Agi K. Gedeon, John Nelson, Jozef Gécz, John C. Mulley

Research output: Contribution to journalArticlepeer-review

60 Citations (Scopus)

Abstract

We describe a family of 19 males in five generations with mild to borderline non-syndromic X-linked mental retardation (MRX). There were no clinical manifestations in the affected males other than mental impairment and relatively long ears, with neuropsychiatric problems in some cases. Linkage analysis carried out on part of the pedigree using 34 markers spanning the X chromosome localized the gene between DXS454 and DXS1001 in Xq23. The maximum two-point lod score was 3.21 at DXS1059. PAK3 is a known MRX gene mapping to the same region. The affected males and obligate carrier females were found to have a missense mutation c.1094C > A in exon 10 causing an A365E substitution in a highly conserved region of the protein. The C to A base change abolishes a PvuII restriction enzyme site providing the basis for a simple test, if required, for carrier detection and prenatal diagnosis in the extended family.

Original languageEnglish
Pages (from-to)509-517
Number of pages9
JournalAmerican Journal of Medical Genetics
Volume120 A
Issue number4
DOIs
Publication statusPublished or Issued - 1 Aug 2003
Externally publishedYes

Keywords

  • MRX
  • Non-syndromic X-linked mental retardation
  • PAK3
  • Xq23

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this