Article
Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency.
Journal of endocrinological investigation - 1 Apr 2024
Zhang X, Gao Y, Lu L, Cao Y, Zhang W, Sun B, Wu X, Tong A, Chen S, Wang X, Mao J, Nie M
Abstract excerpt
BACKGROUND: 21-Hydroxylase deficiency (21-OHD) is caused by pathogenic CYP21A2 variations. CYP21A2 is arranged in tandem with its highly homologous pseudogene CYP21A1P; therefore, it is prone to mismatch and rearrangement, producing different types of complex variations. There were few reports on using only one method to detect different CYP21A2 variants simultaneously. AIMS: Targeted long-read sequencing method...
Topics
- Humans
- Steroid 21-Hydroxylase
- Adrenal Hyperplasia, Congenital
- Mutation
- Pseudogenes
- Tenascin