Analysis of DUOX2 mutations and inheritance pattern in Chinese patients with congenital hypothyroidism

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. (Chin J Endocrinol Metab, 2017, 33: 567-573) Key words: Congenital hypothyroidism; Dualoxidase 2; Mutations; Recessive inheritance