X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family

Eur J Med Genet. 2005 Apr-Jun;48(2):145-52. doi: 10.1016/j.ejmg.2005.01.016. Epub 2005 Feb 12.

Abstract

X-linked mental retardation (XLMR) is a heterogeneous disorder that can be classified as either non-specific (MRX), when mental retardation is the only feature, or as syndromic mental retardation (MRXS). Genetic defects underlying XLMR are being identified at a rapid pace, often starting from X-chromosomal aberrations and XLMR families with a well-defined linkage interval. Here, we present a new family with a syndromic form of XLMR, including mild mental retardation, short stature, microcephaly and hypogonadism. Two-point linkage analysis with 24 polymorphic markers spanning the entire X chromosome was carried out. We could assign the causative gene to a 6 cM interval in Xp22.1-p21.3, with a maximum LOD score of 2.61 for markers DXS989 and DXS1061 at theta = 0.00. No mutations were found in the presented family for two known MRX genes mapping to this interval, ARX and IL1RAPL-1. These data indicate that the interval Xp22.1-p21.3 contains at least one additional MRXS gene.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Belgium
  • Chromosome Mapping
  • Chromosomes, Human, X / genetics*
  • Female
  • Growth Disorders / genetics
  • Humans
  • Hypogonadism / genetics*
  • Infant, Newborn
  • Lod Score
  • Male
  • Mental Retardation, X-Linked / genetics*
  • Microcephaly / genetics*
  • Middle Aged
  • Pedigree
  • Syndrome