期刊
AMERICAN JOURNAL OF MEDICAL GENETICS
卷 110, 期 2, 页码 153-157出版社
WILEY-LISS
DOI: 10.1002/ajmg.10421
关键词
Langer mesomelic dysplasia; Leri-Weill dyschondrosteosis; SHOX gene
We report the clinical and molecular analysis in a consanguineous family in which the skeletal dysplasias Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD) both segregate. A newborn male and his mother, both with Langer mesomelic dysplasia, are described. A homozygous SHOX homeobox point mutation, C517T, was identified by direct sequencing in the proband and his mother. The same mutation was present in the heterozygous state in the proband's father and in the maternal grandmother, both of whom had features of LWD. This C to T transition is predicted to cause an arginine to cysteine amino acid change in a highly conserved region of the recognition helix of the homeodomain, which may reduce the stability of the interaction between the SHOX protein and its target DNA. In addition, the mutation may disrupt a nuclear localization signal in SHOX. This is the first SHOX point mutation identified in a case of LMD, and the first case in which parent to child transmission of LMD has been described. (C) 2002 Wiley-Liss, Inc.
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