Premium
Identification of a novel mutation in 3β‐hydroxysteroid‐Δ8‐Δ7‐isomerase in a case of Conradi–Hünermann–Happle syndrome
Author(s) -
Becker K.,
Csikós M.,
Horváth A.,
Kárpáti S.
Publication year - 2001
Publication title -
experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.108
H-Index - 96
eISSN - 1600-0625
pISSN - 0906-6705
DOI - 10.1034/j.1600-0625.2001.100409.x
Subject(s) - missense mutation , chondrodysplasia punctata , exon , mutation , isomerase , genetics , biology , chemistry , gene
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 3β‐hydroxysteroid‐Δ8‐Δ7‐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.