A high rate of novel CYP11B1 mutations in Saudi Arabia.

doi:10.1016/j.jsbmb.2017.09.018

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Article

A high rate of novel CYP11B1 mutations in Saudi Arabia.

The Journal of steroid biochemistry and molecular biology - 1 Nov 2017

Alzahrani Ali S, Alswailem Meshael M, Murugan Avaniyapuram Kannan, Alhomaidah Doha S, Capper Cameron P, Auchus Richard J, Qasem Ebtesam, Alzahrani Ohoud S, Al-Sagheir Afaf, Bin-Abbas Bassam

Abstract excerpt

Despite ethnic variation, 11 β-hydroxylase deficiency (11β-OHD) has generally been considered the second most common subtype of congenital adrenal hyperplasia (CAH). We report a high rate of novel mutations in this gene (CYP11B1) in patients from Saudi Arabia. We studied 16 patients with 11β-OHD from 8 unrelated families. DNA was isolated from peripheral blood. The 9 exons and exon-intron boundaries of CYP11B1...

Topics

Adolescent
Adrenal Hyperplasia, Congenital
Adult
Child
Child, Preschool
Female
Humans
Male
Mutation
Saudi Arabia
Steroid 11-beta-Hydroxylase
Young Adult

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Open in PubMed

Identifiers

PMID: 28962970
DOI: 10.1016/j.jsbmb.2017.09.018

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