title: An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia.
abstract: Direct DNA sequencing of the steroid 21-hydroxylase gene (CYP21) revealed two novel mutations in two patients with severe congenital adrenal hyperplasia. The nonsense mutation Trp23Stop (TGG --> TGA) was found in a woman with the simple virilizing form of the disease. She was a compound heterozygote, with the previously described Ile173Asn mutation on her other allele. A boy, who developed salt-wasting in the neonatal period, carried an allele with a novel mutation of the canonical splice acceptor site in intron 1 (AG --> GG). He was also a compound heterozygote, with the well-known splice mutation in intron 2 on his other allele.
authors.affiliation: Department of Woman and Child Health, Karolinska Hospital, Stockholm, Sweden.
authors.forename: S
authors.initials: S
authors.lastname: Lajic
authors.forename: A
authors.initials: A
authors.lastname: Wedell
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000235:genetics*; D000328:Adult; D001483:Base Sequence; D018389:Codon, Nonsense / Q000235:genetics; D004247:DNA / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012326:RNA Splicing / Q000235:genetics; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D004247:DNA; D013255:Steroid 21-Hydroxylase