The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l-hydroxylase deficiency in a Chinese cohort.

ABSTRACT:

Background

21-Hydroxylase deficiency (21-OHD) caused by the CYP21A2 gene mutations is the most common form of congenital adrenal hyperplasia. It is an autosomal recessive disorder that results in defective synthesis of cortisol and aldosterone. The incidences of various CYP21A2 gene mutations and the genotype-phenotype correlations vary among different populations.

Materials and methods

The clinical and molecular data of 22 patients were analyzed in this study. All patients were recruited from the neonatal intensive care unit. Locus-specific polymerase chain reaction and Sanger sequencing were applied to identify gene micro-conversions, and multiplex ligation-dependent probe amplification was used to detect large fragment deletions/conversions. Then, the genotypes were categ

SUBMITTER: Liu Y 

PROVIDER: S-EPMC7667303 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature