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Article

Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews.

The Journal of clinical endocrinology and metabolism - 1 Sept 2005

Paperna Tamar, Gershoni-Baruch Ruth, Badarneh Kader, Kasinetz Leah, Hochberg Ze'ev

Abstract excerpt

CONTEXT: In Jews of Moroccan descent (MJ), the prevalence of steroid 11beta-hydroxylase deficiency (11-OHD) is relatively high, with a carrier rate estimated as approximately one in 40. A single mutation in the CYP11B1 gene (encoding 11beta-hydroxylase), R448H, was suggested to account for the disease alleles in this population. STUDY SUBJECTS: We screened 236 healthy MJ for R448H. RESULTS: Only two of the...

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Identifiers

PMID: 16030166
DOI: 10.1210/jc.2005-1145

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews.PMID 16030166Read ↗

Three novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11Beta-hydroxylase deficiency in a moroccan population.Semantic proximity Read ↗

CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.Semantic proximity Read ↗

A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.Semantic proximity Read ↗

Mutations in human 11 beta-hydroxylase genes: 11 beta-hydroxylase deficiency in Jews of Morocco and corticosterone methyl-oxidase II deficiency in Jews of Iran.Semantic proximity Read ↗

Absence of steroid biosynthetic defects in heterozygote individuals for classic 11 beta-hydroxylase deficiency due to a R448H mutation in the CYP11B1 gene.Semantic proximity Read ↗

CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.Semantic proximity Read ↗

High frequency of congenital adrenal hyperplasia (classic 11 beta-hydroxylase deficiency) among Jews from Morocco.Semantic proximity Read ↗

Only two mutations detected in 15 Tunisian patients with 11β-hydroxylase deficiency: the p.Q356X and the novel p.G379V.Semantic proximity Read ↗

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Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other.Semantic proximity Read ↗

Mutations in CYP11B1 gene: phenotype-genotype correlations.Semantic proximity Read ↗

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