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Screening of CYP21 gene mutations in 129 French patients affected by steroid 21‐hydroxylase deficiency
Author(s) -
Barbat Benoit,
Bogyo Any,
RauxDemay MarieCharles,
Kuttenn Frédéarique,
Boué Joelle,
SimonBouy Brigitte,
Serre JeanLouis,
Boué André,
Mornet Etienne
Publication year - 1995
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380050205
Subject(s) - biology , congenital adrenal hyperplasia , exon , 21 hydroxylase , genetics , mutation , phenotype , gene , genotype , genotype phenotype distinction , compound heterozygosity , microbiology and biotechnology
The frequency of 12 different mutations of the steroid 21‐hydroxylase gene (CYP21) was investigated in 129 French patients affected by congenital adrenal hyperplasia (CAH) due to steroid 21‐hydroxylase deficiency. Eighty‐nine percent of the CAH chromosomes were characterized. The most frequent mutations were a C‐G substitution in intron 2, the deletion of the CYP21 gene and a T‐A substitution in exon 4 in the severe form of the disease, and a G‐T substitution in exon 7 in the nonclassic form. The correlation between the genotypes and the clinical forms of the disease showed marked variation in the phenotype from a single genotype, suggesting that individual variation and undetected additional mutations on the same CAH chromosome accounted for the phenotype. In 65 informative meioses of CAH families, no de novo mutation was found. © Wiley‐Liss, Inc.