Novel homozygous p.Y395X mutation in the CYP11B1 gene found in a Vietnamese patient with 11β-hydroxylase deficiency.

doi:10.1016/j.gene.2012.08.009

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Article

Novel homozygous p.Y395X mutation in the CYP11B1 gene found in a Vietnamese patient with 11β-hydroxylase deficiency.

Gene - 10 Nov 2012

Nguyen Huy Hoang, Nguyen Thu Hien, Vu Chi Dung, Nguyen Kim Thoa, Le Bac Viet, Nguyen Thanh Liem, Nong Van Hai

Abstract excerpt

CONTEXT: The deficiency of steroid 11β-hydroxylase is caused by mutations in the CYP11B1 gene and is the second major form of congenital adrenal hyperplasia associated with hypertension. OBJECTIVE: The objective of this study was to screen the CYP11B1 gene for mutations in one Vietnamese male suffering from congenital adrenal hyperplasia. PATIENT: The patient (46,XY) had congenital adrenal hyperplasia. The...

Topics

Adrenal Hyperplasia, Congenital
Asian People
Child
DNA Mutational Analysis
Exons
Female
Homozygote
Humans
Infant
Male
Mutation
Steroid 11-beta-Hydroxylase

Source

Open in PubMed

Identifiers

PMID: 22921894
DOI: 10.1016/j.gene.2012.08.009

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