DUOX2 mutations are frequently associated with congenital hypothyroidism in a Chinese Patients

VernacularTitle:DUOX2在先天性甲状腺功能减退症患者中的突变筛查及遗传模式分析
Author: Feng SUN ; Junxiu ZHANG ; Changyi YANG ; Keyi SONG ; Gang CHEN ; Wenbin ZHU ; Shuangxia ZHAO ; Yueyue WAN ; Ruijia ZHANG ; Manman ZHANG ; Huaidong SONG
Keywords: Congenital hypothyroidism; Dualoxidase 2; Mutations; Recessive inheritance
From: Chinese Journal of Endocrinology and Metabolism 2017;33(7):567-573
CountryChina
Language:Chinese
Abstract: Objective To investigate the prevalence of DUOX2 mutations in Chinese patients with congenital hypothyroidism (CH) and to discuss the inheritance pattern of DUOX2 gene.Methods Blood samples were collected from 91 CH children and their genomic DNA was extracted from peripheral blood leukocytes.All exons and exon-intron boundaries of DUOX2 were analyzed by target next-generation sequencing and family trios was established to study the inheritance pattern of DUOX2 gene.Results Fifty-four out of 91 children with CH carried DUOX2 mutation, with a prevalence of 59.34%.Of the 54 CH children, 36 carried DUOX2 biallelic mutations.In all 12 family trios with probands carrying biallelic DUOX2 mutations, the parents carried heterozygous DUOX2 mutations while still showing normal thyroid function, suggesting that CH caused by DUOX2 mutations is inherited in an autosomal recessive manner.Conclusion DUOX2 gene is one of the most frequently mutated genes in Chinese CH patients and its inheritance pattern is an autosomal recessive one.