暂时性甲状腺功能减低伴甲状腺肿大患儿DUOX2基因突变的研究

目的 研究暂时性先天性甲状腺功能减退伴甲状腺肿大患者DUOX2基因突变情况.方法 对5例暂时性甲状腺功能减低伴甲状腺肿大患者DUOX2基因的全部外显子进行基因突变筛查,基因突变类型和特点.结果 在1例先天性甲状腺功能减低症( Congenital Hypothyroidism,CH)患儿中发现DUOX2基因一个等位基因的杂合性突变,为第10外显子cDNA的1329位点发生C＞T的突变(c.C1329T),导致第376密码子精氨酸突变为色氨酸(p.Arg376Trp).其他4例CH患儿均没有发现DUOX2基因突变.结论 在先天性甲状腺功能减退患儿中也发现了DUOX2基因的p.Arg376Trp突变,该突变的单个等位基因剂量的改变可能导致先天性甲状腺功能减退.

DUOX2 gene mutation in patients with congenital goiter with hypothyroidism

Objective To identify DUOX2 gene mutation in patients with congenital goiter with hypothyroidism.Method Five patients who had transit congenital hypothyroidism with goiter were enrolled.The exons of DUOX2 gene were amplified and sequenced.Result A heterozygous missense mutation C1329T in the exon 10 of the DUOX2 gene was found in one patient,predicted to result in a Tryptophan to Arginine substitution at codon 376.However no mutation was detected in the other patients.Conclusion p.Arg376Trp mutation in DUOX2 was found in newborns of congenital hypothyroidism.The alleles frequency of this mutation may contribute to the function loss of congenital hypothyroidism.