Lü Zhi-ping, Li Gui-hua, Li Wen-jie, Liu Shi-guo
Department of Clinical Laboratory, Yantai Yantaishan Hospital, Yantai 264008, China.
Zhonghua Er Ke Za Zhi. 2011 Dec;49(12):943-6.
To identify DUOX2 gene mutation in patients with congenital goiter with hypothyroidism.
Five patients who had transit congenital hypothyroidism with goiter were enrolled. The exons of DUOX2 gene were amplified and sequenced.
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.
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.
鉴定先天性甲状腺肿伴甲状腺功能减退患者的DUOX2基因突变。
纳入5例患有暂时性先天性甲状腺功能减退伴甲状腺肿的患者。对DUOX2基因的外显子进行扩增和测序。
在1例患者中发现DUOX2基因第10外显子存在杂合错义突变C1329T，预计导致密码子376处的色氨酸被精氨酸替代。然而，在其他患者中未检测到突变。
在先天性甲状腺功能减退的新生儿中发现了DUOX2基因的p.Arg376Trp突变。该突变的等位基因频率可能导致先天性甲状腺功能减退的功能丧失。
