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Article

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

Orphanet journal of rare diseases - 28 Oct 2024

Xia Yanjie, Yu Feng, Bai Ying, Jiang Lili, Shi Panlai, Jiang Zhengwen, Kong Xiangdong

Abstract excerpt

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...

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Identifiers

PMID: 39468716
DOI: 10.1186/s13023-024-03414-4
PMCID: PMC11514819

Genes

CYP21A2

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