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

Hilde Van Esch, Ginevra Zanni, Maureen Holvoet, Martine Borghgraef, Jamel Chelly, Jean Pierre Fryns, Koenraad Devriendt

Research output: Contribution to journalArticle

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 θ = 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.

Original languageEnglish
Pages (from-to)145-152
Number of pages8
JournalEuropean Journal of Medical Genetics
Volume48
Issue number2
DOIs
Publication statusPublished - Apr 2005

Keywords

  • Microcephaly
  • MRXS
  • Short stature
  • X-linked mental retardation

ASJC Scopus subject areas

  • Genetics

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