title: Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency.
abstract: 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.
authors.affiliation: Centre d'Etudes de Biologie Prénatale, SESEP-Laboratoire, Château de Longchamp, Bois de Boulogne, Paris, France.
authors.forename: B
authors.initials: B
authors.lastname: Barbat
authors.forename: A
authors.initials: A
authors.lastname: Bogyo
authors.forename: M C
authors.initials: MC
authors.lastname: Raux-Demay
authors.forename: F
authors.initials: F
authors.lastname: Kuttenn
authors.forename: J
authors.initials: J
authors.lastname: Boué
authors.forename: B
authors.initials: B
authors.lastname: Simon-Bouy
authors.forename: J L
authors.initials: JL
authors.lastname: Serre
authors.forename: E
authors.initials: E
authors.lastname: Mornet
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000453:epidemiology* / Q000235:genetics*; D000483:Alleles; D001483:Base Sequence; D015139:Blotting, Southern; D005260:Female; D005602:France / Q000453:epidemiology; D006801:Humans; D008297:Male; D008540:Meiosis; D008969:Molecular Sequence Data; D009154:Mutation; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D013255:Steroid 21-Hydroxylase