title: Identification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hünermann-Happle syndrome.
abstract: The X-linked dominant Conradi-Hünermann-Happle (CDPX2, MIM 302960) syndrome belongs to the rare, heterogeneous group of diseases called chondrodysplasia punctata. The disease has been connected recently with deficiency of 3beta-hydroxysteroid-Delta8-Delta7-isomerase (also called emopamil-binding protein, EBP), catalysing an intermediate step in the conversion of lanosterol to cholesterol (1, 2). We report a case of CDPX2 with a new missense mutation (C-->G 439) in exon 4, leading to a R147G aminoacid substitution in the EBP.
authors.affiliation: Department of Dermatology, Semmelweis University, H-1085 Budapest, Mária u. 41, Hungary. becker@bor.sote.hu
authors.forename: K
authors.initials: K
authors.lastname: Becker
authors.forename: M
authors.initials: M
authors.lastname: Csikós
authors.forename: A
authors.initials: A
authors.lastname: Horváth
authors.forename: S
authors.initials: S
authors.lastname: Kárpáti
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D001483:Base Sequence / Q000235:genetics; D002806:Chondrodysplasia Punctata / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D020180:Heteroduplex Analysis; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012016:Reference Values; D013251:Steroid Isomerases / Q000235:genetics*
chemical_list: D013251:Steroid Isomerases; C022669:delta(8)-delta(7)-sterol isomerase