Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22

Gillian Turner, Agi Gedeon, Bronwyn Kerr, Rachael Bennett, John Mulley, Michael Partington

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

An X-linked recessive syndromic form of mental retardation is described in a family in which 10 males in four generations were affected. The main manifestations were severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, and difficult, aggressive behavior. There was a moderate reduction both in occipitofrontal circumference (OFC) and height and a similar facial appearance, triangular in shape with a high forehead, prominent ears, and a small pointed chin. Linkage analysis located the gene at Xp22 with maximum lod scores of 4.8 at theta = 0.0 for markers mapping between the closest recombination points at DXS7104 and DXS418. The physical length of this region is approximately 6 Mb. Mutations in the GRPR gene and M6b genes were excluded by sequence analysis. Nearby genes in which mutations are known to be associated with mental retardation (RPS6KA3, STK9, and VCXA, B and C), were excluded by position.

Original languageEnglish
Pages (from-to)245-50
Number of pages6
JournalAm J Med Genet A
Volume117A
Issue number3
DOIs
Publication statusPublished - 15 Mar 2003
Externally publishedYes

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