Analysis of clinical phenotypes and CYP21A2 gene variants in 18 patients with 21-hydroxylase deficiency.
10.3760/cma.j.issn.1003-9406.2019.02.006
- Author:
Ruizhi ZHENG
1
;
Li ZHANG
;
Qian YUAN
;
Hua MAN
;
Junpeng YANG
;
Yanfang WANG
;
Ziying HU
;
Huifeng ZHANG
Author Information
1. Department of Endocrinology, Henan Provincial People's Hospital, Zhengzhou, Henan 450003, China. zhfl666777@163.com.
- Publication Type:Journal Article
- MeSH:
Adrenal Hyperplasia, Congenital;
genetics;
Genotype;
Humans;
Mutation;
Phenotype;
Steroid 21-Hydroxylase;
genetics
- From:
Chinese Journal of Medical Genetics
2019;36(2):120-123
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genotype-phenotype correlation among 18 patients with 21-hydroxylase deficiency (21-OHD).
METHODS:PCR-Sanger sequencing was used to analyze the 10 exons and flanking regions of the CYP21A2 gene among the 18 patients and 20 healthy controls.
RESULTS:Seventeen patients had variants of the CYP21A2 gene. Eight patients (44.4%, 8/18) carried homozygous variants including p.Ile 173Asn (62.5%, 5/8), p.Pro31Leu (25.0%, 2/8), and IVS2-13A/C>G (12.5%, 1/8), respectively. Six patients (33.3%, 6/18) carried compound heterozygous variant, among which IVS2-13 A>G+p.Ile 173Asn were most common (50.0%). 94.4% (34/36) of the variant were pathogenic, with the most common variants being p.Ile173Asn (41.7%), IVS2-13A/C>G (19.4%), and p.Ile173Asn (7.5%). No variant was identified among the 20 healthy controls.
CONCLUSION:The majority of 21-OHD patients carried CYP21A2 gene variants in homozygous or compound heterozygous forms, among which the p.Ile173Asn was the most common one. There is a strong correlation between the genotypes and clinical phenotypes.
