Identification of novel and rare CYP21A2 variants in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
CONCLUSIONS: One novel and four rare variants of CYP21A2 gene corresponding to severe phenotypes were identified in our cohort. Two variants including p.R409C and p.R427H have wider ethnic distributions. Therefore, the sequence of CYP21A2 gene must be analyzed carefully in case rare or novel deleterious variants exist. Our findings improve the understanding of CYP21A2 mutational spectrum in 21-OHD patients and contribute to the precise diagnosis and prenatal counseling.
PMID: 30995443 [PubMed - as supplied by publisher]
Source: Clinical Biochemistry - Category: Biochemistry Authors: Xu J, Li P Tags: Clin Biochem Source Type: research
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