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X‐linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male
Author(s) -
Aughton David J.,
Kelley Richard I.,
Metzenberg Aida,
Pureza Vincent,
Pauli Richard M.
Publication year - 2002
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.10852
Subject(s) - genetics , chondrodysplasia punctata , biology , gene , mutation
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‐Δ 8 ‐Δ 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‐Δ 8 ‐Δ 7 isomerase gene mutation. He is the first reported example of single gene mosaicism giving rise to CDPX2 in a male. © 2002 Wiley‐Liss, Inc.