Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

ABSTRACT:

Background

Genetic analysis is commonly performed in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency.

Study objective

The objective of the study was to describe comprehensive CYP21A2 mutation analysis in a large cohort of CAH patients.

Methods

Targeted CYP21A2 mutation analysis was performed in 213 patients and 232 parents from 182 unrelated families. Complete exons of CYP21A2 were sequenced in patients in whom positive mutations were not identified by targeted mutation analysis. Copy number variation and deletions were determined using Southern blot analysis and PCR methods. Genotype was correlated with phenotype.

Results

In our heterogeneous U.S. cohort, targeted CYP21A2 mutation analysis did not identify mutations on one a

SUBMITTER: Finkielstain GP 

PROVIDER: S-EPMC3038490 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature