A nonsense mutation (TGG [Trp116]-->TAG [Stop]) in CYP11B1 causes steroid 11 beta-hydroxylase deficiency

• Published in: The journal of clinical endocrinology and metabolism Vol. 77; no. 6; p. 1677
• Main Authors: Naiki, Y, Kawamoto, T, Mitsuuchi, Y, Miyahara, K, Toda, K, Orii, T, Imura, H, Shizuta, Y
• Format: Journal Article
• Language: English
• Published: United States 01.12.1993
• Subjects: Adrenal Hyperplasia, Congenital; Adult; Base Sequence; Cells, Cultured; Codon; Exons; Humans; Male; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Steroid 11-beta-Hydroxylase - genetics; Transfection

Steroid 11 beta-hydroxylase deficiency (11 beta OHD), an autosomal recessive hereditary disease, accounts for 5-8% of cases of congenital adrenal hyperplasia. In this study, we carried out a molecular genetic analysis of CYP11B1 encoding steroid 11 beta-hydroxylase (P450c11) from a Japanese patient...