Novel rapid molecular diagnosis methods for comprehensive genetic analysis of 21-hydroxylase deficiency.

ABSTRACT:

Background

Molecular analysis of the CYP21A2 gene is highly important for understanding the aetiology of 21-hydroxylase deficiency (21-OHD). The aim of this study was to use a novel approach named CNVplex, together with the SNaPshot assay and direct sequencing, to identify CYP21A2 mutations efficiently and comprehensively. Targeted CYP21A2 mutation analysis was performed in 113 patients and 226 parents. Large rearrangements of CYP21A2 were characterized by CNVplex; twenty prevalent mutations, including nine common micro-conversions and eleven high-frequency mutations reported in the literature, were detected by SNaPshot; and rare mutations were investigated by direct sequencing.

Results

Among the 113 21-OHD patients, 95.6% of the affected alleles were detected accurately by

SUBMITTER: Xia Y 

PROVIDER: S-EPMC11514819 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature