中文摘要：

目的：研究先天性甲状腺功能减退症（CH）伴甲状腺发育不全患儿转录因子2（FOXE1）的基因突变。方法：选取90例CH伴甲状腺发育不全患儿及90例正常儿童作为对照,提取外周静脉血基因组DNA,采用PCR扩增与直接测序技术,对FOXE1基因外显子进行突变筛查。结果：分别在1例先天性甲状腺功能减退症伴甲状腺发育不全患者外显子测序中发现一杂合错义变体c.A3401G（p.K1134R）,在1例患者中发现1个已知的单核苷酸多态性（single nucleotide polymorphisms,SNP）位点（rs755282859,c.483G〉C）,在正常对照组中未发现以上变化。结论：在先天性甲状腺功能减退症（CH）伴甲状腺发育不全患儿中发现新的关于FOXE1杂合错义变体。

英文摘要：

Objective： The present study aimed to screen for FOXEI mutations among Congenital Hypothyroidism （CH） with dysgenesis patients in Shandong province. Methods： Genomic DNA was extracted from peripheral blood leukocytes of 90 unrelated patients with CH and dysgenesis. The exon sequences of FOXE1 were amplified by PCR and directly sequenced. 90 normal subjects were recruited as controls. Results： A novel heterozygous missense variant, c.A3401G （p.Kl134R）, and a single nucleotide polymorphism （rs755282859, c.483G〉C） in FOXEI were identified in two CH patients with dysgenesis, which was not found in those 90 healthy control subjects. Conclusions： We identified a novel heterozygous missense FOXE1 variant in CH patients with dysgenesis.