Genotype-phenotype correlation in patients with 21-hydroxylase deficiency.

ABSTRACT:

Introduction

21-hydroxylase deficiency (21OHD) is the most common cause of congenital adrenal hyperplasia (CAH). However, patients with 21OHD manifest various phenotypes due to a wide-spectrum residual enzyme activity of different CYP21A2 mutations.

Methods

A total of 15 individuals from three unrelated families were included in this study. Target Capture-Based Deep Sequencing and Restriction Fragment Length Polymorphism was conducted on peripheral blood DNA of the three probands to identify potential mutations/deletions in CYP21A2; Sanger sequencing was conducted with the DNA from the family members of the probands.

Results

Dramatically different phenotypes were seen in the three probands of CAH with different compound heterozygous mutations in CYP21A2. Proband 1 man

SUBMITTER: Tang P 

PROVIDER: S-EPMC10042299 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature