Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD)

Ángel Campos-Barros, Sara Benito-Sanz, Judith L. Ross, Andrew R. Zinn, Karen E. Heath

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

We present the clinical and molecular characteristics of a multi-generation family in which the proband presented with clinical features of Langer mesomelic dysplasia (LMD) whilst different family members had a diagnosis of Léri-Weill dyschondrosteosis (LWD) and/or pseudoachondroplasia (PSACH). In the LMD proband two different deletions were identified in the pseudoautosomal 1 region (PAR1) of the X and Y chromosomes: a SHOX-encompassing deletion inherited from his father and a downstream PAR1 deletion, which did not include SHOX, inherited from his mother. The individuals with PSACH features presented the previously described G719D mutation in the C-terminal globular domain of the cartilage oligomeric matrix protein gene (COMP). The LMD proband described here represents the first LMD case due to compound heterozygosity for deletions of the two different PAR1 regions, SHOX-encompassing and downstream from SHOX, that have been shown to be implicated in the pathogenesis of LWD and LMD.

Original languageEnglish (US)
Pages (from-to)933-938
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume143
Issue number9
DOIs
StatePublished - May 1 2007

Keywords

  • COMP
  • Deletion
  • Langer mesomelic dysplasia
  • Léri-Weill dyschondrosteosis
  • PAR1
  • Pseudoachondroplasia
  • SHOX

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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