Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.

doi:10.1210/jc.2009-0651

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Article

Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.

The Journal of clinical endocrinology and metabolism - 1 Feb 2010

Parajes Silvia, Loidi Lourdes, Reisch Nicole, Dhir Vivek, Rose Ian T, Hampel Rainer, Quinkler Marcus, Conway Gerard S, Castro-Feijóo Lidia, Araujo-Vilar David, Pombo Manuel, Dominguez Fernando, Williams Emma L, Cole Trevor R, Kirk Jeremy M, Kaminsky Elke, Rumsby Gill, Arlt Wiebke, Krone Nils

Abstract excerpt

CONTEXT: Steroid 11beta-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia (CAH). Cases of nonclassic 11OHD are rare compared with the incidence of nonclassic 21-hydroxylase deficiency. OBJECTIVE: The aim of the study was to analyze the functional consequences of seven novel CYP11B1 mutations (p.M88I, p.W116G, p.P159L, p.A165D, p.K254_A259del, p.R366C,...

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PMID: 20089618
DOI: 10.1210/jc.2009-0651
PMCID: PMC2846960

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