Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency

The Journal of Clinical Endocrinology and Metabolism
D P MerkeG B Cutler

Abstract

The second most common cause of congenital adrenal hyperplasia is 11 beta-hydroxylase deficiency, an autosomal recessive disorder. We performed genetic analysis of CYP11B1, the gene encoding steroid 11 beta-hydroxylase, in three patients with classic 11 beta-hydroxylase deficiency. Herein we describe the first splice donor site mutation, a new nonsense mutation, and a new missense mutation in this disorder. An African-American patient was found to be a compound heterozygote for a codon 318 + 1G --> A substitution at the 5'-splice donor site of intron 5, in combination with Q356X, a nonsense mutation previously reported in an African-American patient. A Caucasian patient was found to be a compound heterozygote with a novel missense mutation, T318R, in combination with a previously reported 28-bp deletion in exon 2. A different mutation at codon 318 (T318M) has been described previously. A Caucasian patient was heterozygous for a novel nonsense mutation (Q19X) in exon 2. The second mutation was not identified in this patient. Multiple apparent polymorphisms were also observed. Two of these polymorphisms in CYP11B1 represent sequences from CYP11B2, suggesting that gene conversion may have occurred. In summary, we have identified t...Continue Reading

Citations

Jul 30, 2008·World Journal of Pediatrics : WJP·Li-Qiang ZhaoHao-Ming Tian
Jun 7, 2015·The Journal of Steroid Biochemistry and Molecular Biology·Adina F Turcu, Richard J Auchus
Nov 4, 2015·Endocrinology, Diabetes & Metabolism Case Reports·Chrisanthi MarakakiAnastasios Papadimitriou
Jun 19, 2016·BMC Endocrine Disorders·Pattaranatcha CharnwichaiVorasuk Shotelersuk
Jul 21, 2005·The Journal of Clinical Endocrinology and Metabolism·Tamar PapernaZe'ev Hochberg

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