Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency

Etienne Mornet, Patrice Crété, Frédérique Kuttenn, Marie Charles Raux-Demay, Joelle Boué, Perrin C. White, André Boué

Research output: Contribution to journalArticle

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Abstract

To characterize mutations in the CYP21B gene that are responsible for congenital adrenal hyperplasia (CAH), DNA samples from 91 French patients have been studied by allelic-specific oligonucleotide hybridization and Southern blot analysis. Seven sites mostly found in the CYP21A pseudogene and deletions of the functional CYP21B gene have been screened. Gene conversions involving small DNA segments accounted for 57% of the tested mutations and probably cause 74% of the mutations responsible for the disease. Complete deletion of the CYP21B gene accounted for 18% of the CAH mutations in the whole sample and for 21% in the classical form of the disease. Three mutations were found associated with specific clinical forms of the disease: a G-C substitution in the seventh exon was associated with the lateonset form of the disease, and both an 8-bp depletion in the third exon and complete deletion of CYP21B were associated with the salt-wasting form.

Original languageEnglish (US)
Pages (from-to)79-88
Number of pages10
JournalAmerican Journal of Human Genetics
Volume48
Issue number1
StatePublished - Jan 1991

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Steroid 21-Hydroxylase
Point Mutation
Mutation
Congenital Adrenal Hyperplasia
Genes
Exons
Gene Conversion
Pseudogenes
DNA
Gene Deletion
Southern Blotting
Oligonucleotides
Salts
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency

ASJC Scopus subject areas

  • Genetics

Cite this

Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency. / Mornet, Etienne; Crété, Patrice; Kuttenn, Frédérique; Raux-Demay, Marie Charles; Boué, Joelle; White, Perrin C.; Boué, André.

In: American Journal of Human Genetics, Vol. 48, No. 1, 01.1991, p. 79-88.

Research output: Contribution to journalArticle

Mornet, Etienne ; Crété, Patrice ; Kuttenn, Frédérique ; Raux-Demay, Marie Charles ; Boué, Joelle ; White, Perrin C. ; Boué, André. / Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency. In: American Journal of Human Genetics. 1991 ; Vol. 48, No. 1. pp. 79-88.
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