X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male

David J. Aughton, Richard I. Kelley, Aida Metzenberg, Vincent Pureza, Richard M. Pauli

Research output: Contribution to journalArticlepeer-review

Abstract

X-linked dominant chondrodysplasia punetata (CDPX2; Happle syndrome) is recognized almost exclusively in females, who display mosaic and asymmetric features, presumed to arise secondary to random X-inactivation. CDPX2 results from mutation of an X-linked gene coding for sterol-Δ87 isomerase (emopamil binding protein). We describe a boy with clinical features of CDPX2 (including those presumed to arise usually secondary to functional mosaicism in females). Biochemical and molecular studies demonstrate that he is mosaic for a sterol-Δ87 isomerase gene mutation. He is the first reported example of single gene mosaicism giving rise to CDPX2 in a male.

Original languageEnglish (US)
Pages (from-to)255-260
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume116
Issue number3
DOIs
StatePublished - Jan 2003

Keywords

  • Bone dysplasia
  • Conradi-Hünermann syndrome
  • Happle syndrome
  • SterolΔ-Δ isomerase
  • Stippled epiphyses

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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