title: [Virilizing congenital adrenogenital syndrome with a de novo I172N mutation: study of a new case].
abstract: The classical form of congenital adrenal hyperplasia is the result of mutations in the 21-hydroxylase gene (CYP21A2). Most deficient alleles carry pre-existing mutations in the CYP21PA homologue pseudogene, located in tandem. Mutant alleles are inherited from carrier parents, and de novo mutations during gametogenesis or foetal development are exceptional. The present paper describes a de novo mutation occurring at the maternal allele (I172N) of a patient with a classical form of 21-hydroxylase deficiency, whose father was heterozygous for R356W. The mother did not carry the mutation. Microsatellite analyses confirmed a correct allelic segregation. The I172N mutation (in compound heterozygosity with a null mutation) gives rise to a virilizing phenotype not associated with salt-wasting.
authors.affiliation: Servicio de Pediatría, Hospital de Txagorritxu, Vitoria, España. ignacio.diezlopez@osakidetza.net
authors.forename: I
authors.initials: I
authors.lastname: Díez López
authors.forename: A
authors.initials: A
authors.lastname: Rodríguez Estévez
authors.forename: E
authors.initials: E
authors.lastname: González Molina
authors.forename: M
authors.initials: M
authors.lastname: Martínez Ayucar
authors.forename: B
authors.initials: B
authors.lastname: Rodríguez Pérez
authors.forename: B
authors.initials: B
authors.lastname: Ezquieta Zubicaray
mesh_terms: D047808:Adrenogenital Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase