DUOX2基因突变引起先天性甲状腺功能减低伴甲状腺肿大的研究

Study of DUOX2 mutation caused congenital goiter with hypothyroidism

目的研究先天性甲状腺功能减退(CH)患者DUOX2基因突变情况及基因型与表现型的关系。方法对10例CH患者伴甲状腺肿大的DUOX2基因的全部外显子进行基因突变筛查。结果在1例CH患儿中发现DUOX2基因单个等位基因的杂合性突变,为第17外显子cDNA的2101位点发生了C>T的突变(c.C2101T),导致第701密码子精氨酸变为终止密码(p.R701X)。结论我们的结果证实了DUOX2基因单个等位基因突变可引起CH伴甲状腺肿大。

Objective：To identify DUOX2 mutation and genotype-phenotype relationship in congenital hypothyroidism patients.Methods： We enrolled 10 patients who had transit congenital hypothyroidism with goiter.The exons of DUOX2 were amplified and sequenced.Results： A heterozygous mutation C2101T in the exon 17 of the DUOX2 was found in one patient,predicted to resulted in a stop codon to Arginine substitution at codon 701.Conclusion： Our results suggest that single allele mutation in DUOX2 can cause transit congenital hypothyroidism with goiter.