先天性甲状腺功能减低症患儿DUOXA2基因突变研究

发布时间：2018-04-02 02:16

  本文选题：先天性甲状腺功能减低症　切入点：DUOXA基因　出处：《中国当代儿科杂志》2017年01期

【摘要】：目的 探讨广州地区先天性甲状腺功能减低症(CH)患儿DUOXA2基因突变特点及其基因型与表型的关系。方法 采用PCR及直接测序法,对2011年至2012年出生、广州市新生儿筛查中心诊断并排除DUOX2基因突变的20例疑似甲状腺激素合成障碍的CH患者进行DUOXA2基因突变分析。结果 20例CH患者中2例为p.Y246X/p.Y246X纯合突变;4例为单等位基因杂合突变:分别为已知致病突变c.413-414ins A携带者2例,p.Y246X携带者1例,新突变p.G79R携带者1例。2~3岁再评估时显示,2例p.Y246X/p.Y246X纯合突变者分别表现为暂时性CH及轻度永久性CH;4例单等位基因突变者,除1例p.Y246X携带者表现为典型永久性CH外,其余3例携带者均为暂时性CH。结论 DUOXA2基因突变是广州地区疑似甲状腺激素合成障碍性CH患儿较常见的分子发病基础,多数表现为暂时性CH,未发现DUOXA2基因型与表型的关系。新突变p.G79R为致病性突变的可能性大。
[Abstract]:Objective to investigate the characteristics of DUOXA2 gene mutation and the relationship between genotype and phenotype in children with congenital hypothyroidism in Guangzhou. Methods PCR and direct sequencing were used to analyze the relationship between DUOXA2 gene mutation and phenotype in children with congenital hypothyroidism from 2011 to 2012. DUOXA2 gene mutation was analyzed in 20 patients with suspected thyroid hormone synthesis disorder diagnosed and excluded from DUOX2 gene mutation in Guangzhou Neonatal screening Center. Results of 20 Ch patients, 2 were p.Y246X/p.Y246X homozygous mutations and 4 were monomorphic. The heterozygous mutation of the locus gene: 2 cases of c.413-414ins A carrier with known pathogenicity, 1 case of Y246X carrier. One case of newly mutated p.G79R carrier at the age of 3 years showed that 2 cases of p.Y246X/p.Y246X homozygous mutation showed transient Ch and 4 cases of mild permanent p.Y246X/p.Y246X mutation, except for one case of p.Y246X carrier with typical permanent Ch. Conclusion the mutation of DUOXA2 gene is a common molecular pathogenesis of suspected thyroid hormone synthesis disorder Ch in Guangzhou area. Most of them showed temporary CH.There was no relationship between DUOXA2 genotype and phenotype. The new mutation p.G79R was more likely to be pathogenicity mutation.
【作者单位】： 广州市妇女儿童医疗中心广州市新生儿筛查中心;广州市妇女儿童医疗中心遗传与内分泌科;
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