Correlation between CYP21A2 genotype and phenotype in patients with 21-hydroxylase deficiency

VernacularTitle:21-羟化酶缺乏症基因型和临床表型分析
Author: Yun SUN ; Dingyuan MA ; Tao JIANG ; Yulin CHEN ; Yijun SUN ; Bing YANG ; Jin ZHANG ; Meilian HUANG ; Zhengfeng XU
Publication Type:Journal Article
Keywords: 21-hydroxylase deficiency; mutation; genotype; screening
From: Journal of Clinical Pediatrics 2013;(7):622-625
CountryChina
Language:Chinese
Abstract: Objectives To study the mutation spectrum in CYP21A2 gene in patients with 21-hydroxylase deficiency (21-OHD), and to analyze the relationship between genotype and phenotype. Methods Eighteen patients with 21-OHD were identified by neonatal screening of 17α-OH progesterone (17α-OHP). The allele specific PCR-DNA sequencing com-bining with multiplex ligation-dependent probe amplification was applied to determine the genotype in the patients and their parents. Results Six mutations of CYP21A2 gene were identified. I2G (44.4%) and del (33.3%) were the most frequent mutations and also were the most common mutations in salt-wasting form. The detection rate of I172N mutation in simple virilizing form was 75%. Patients were classified into three groups according to the degree of 21-hydroxylase enzymatic compromise caused by the mutation. The serum 17α-OHP, ACTH and T levels which reflected the severity of disease were significantly different among three groups (P<0.05). Conclusions The genetic diagnosis of 21-OHD reveals the consistency between genotype and phenotype.