Clinical profile and inheritance pattern of CYP21A2 gene mutations in patients with classical congenital adrenal hyperplasia from 10 families.

ABSTRACT:

Context

Congenital adrenal hyperplasia (CAH) is an autosomal recessive metabolic disorder caused by mutations in the CYP21A2 gene. Genetic diagnosis of 21-OH deficiency causing CAH is more complicated than any other monogenic disorder due to high variability of the locus. The disease has a wide spectrum of clinical variants making it difficult to establish a genotyp-phenotype correlation. Therefore, family studies are necessary to ascertain parental genotype and segregation of the mutant allele among the offspring.

Aim

The present study aimed to identify CYP21A2 gene mutations and analyze the segregation pattern in CAH trios (patients and their parents).

Materials and methods

A total of ten families having at least one CAH child were recruited.

Results

Out of 3

SUBMITTER: Yadav S 

PROVIDER: S-EPMC4566346 | biostudies-literature | 2015 Sep-Oct

REPOSITORIES: biostudies-literature