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Case Reports
. 2003 Jan 30;116A(3):255-60.
doi: 10.1002/ajmg.a.10852.

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

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Case Reports

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

David J Aughton et al. Am J Med Genet A. .

Abstract

X-linked dominant chondrodysplasia punctata (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-delta(8)-delta(7) 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-delta(8)-delta(7) isomerase gene mutation. He is the first reported example of single gene mosaicism giving rise to CDPX2 in a male.

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