Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia.

ABSTRACT:

Background

Congenital adrenal hyperplasia (CAH) (OMIM #201910) is a complex disease most often caused by pathogenic variant of the CYP21A2 gene. We have designed an efficient multistep approach to diagnose and classify CAH cases due to CYP21A2 variant and to study the genotype-phenotype relationship.

Methods

A large cohort of 212 Vietnamese patients from 204 families was recruited. We utilized Multiplex Ligation-dependent Probe Amplification to identify large deletion or rearrangement followed by complete gene sequencing of CYP21A2 to map single-nucleotide changes and possible novel variants.

Results

Pathogenic variants were identified in 398 out of 408 alleles (97.5%). The variants indexed span across most of the CYP21A2 gene regions. The most common genotypes were:

SUBMITTER: Chi DV 

PROVIDER: S-EPMC6503067 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature