title: CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency.
abstract: Congenital adrenal hyperplasia caused by 21-hydroxylase deficiency is a common autosomal recessive disorder resulting from mutations in the 21-hydroxylase (CYP21) gene. To develop a strategy to screen for the most commonly occurring CYP21 mutations in Brazil, we performed molecular genotype analysis on 73 children with CAH representing 71 unrelated families. The techniques used for CYP21 molecular genotype analysis were: restriction fragment length polymorphism, single-strand conformational polymorphism, allele-specific oligonucleotide hybridization, allele-specific polymerase chain reaction amplification, and heteroduplex analyses. Mutations were identified on all but eight affected alleles. The intron 2 splicing mutation was the most frequently identified mutation. Screening for the most common mutations detected at least one mutation on 132/142 (93%) alleles. Multiple CYP21 mutations were detected on 16.2% of alleles. The high frequency of multiple mutations on a single allele emphasizes the importance of thorough and accurate molecular genotype analysis of the complex CYP21 locus.
authors.affiliation: Division of Endocrinology, Children's Hospital of Pittsburgh, University of Pittsburgh, PA 15213, USA. witches@chplink.chp.edu
authors.forename: S F
authors.initials: SF
authors.lastname: Witchel
authors.forename: R
authors.initials: R
authors.lastname: Smith
authors.forename: C E
authors.initials: CE
authors.lastname: Crivellaro
authors.forename: T
authors.initials: T
authors.lastname: Della Manna
authors.forename: V
authors.initials: V
authors.lastname: Dichtchekenian
authors.forename: N
authors.initials: N
authors.lastname: Setian
authors.forename: D
authors.initials: D
authors.lastname: Damiani
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D017668:Age of Onset; D000483:Alleles; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010641:Phenotype; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D013255:Steroid 21-Hydroxylase