title: X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male.
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.
authors.affiliation: Division of Genetics, Department of Pediatrics, William Beaumont Hospital, Royal Oak, Michigan, USA.
authors.forename: David J
authors.initials: DJ
authors.lastname: Aughton
authors.forename: Richard I
authors.initials: RI
authors.lastname: Kelley
authors.forename: Aida
authors.initials: A
authors.lastname: Metzenberg
authors.forename: Vincent
authors.initials: V
authors.lastname: Pureza
authors.forename: Richard M
authors.initials: RM
authors.lastname: Pauli
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D002775:Cholestadienols / Q000097:blood; D002784:Cholesterol / Q000097:blood; D002806:Chondrodysplasia Punctata / Q000097:blood / Q000235:genetics* / Q000473:pathology; D041321:Chromosomes, Human, X / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005799:Genes, Dominant / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009030:Mosaicism; D020125:Mutation, Missense; D013251:Steroid Isomerases; D013577:Syndrome
chemical_list: D002352:Carrier Proteins; D002775:Cholestadienols; C026359:cholesta-5,8-dien-3 beta-ol; D004247:DNA; D002784:Cholesterol; D013251:Steroid Isomerases; C090445:EBP protein, human