ZFP57基因相关新生儿暂时性糖尿病双胎报告并文献复习

ZFP57 gene-related neonatal transient diabetes in twins:a case report and literature review

目的探讨ZFP57基因变异所致新生儿暂时性糖尿病(TNDM)的临床及基因变异特征。方法回顾分析2019年12月收治的一对ZFP57基因变异所致TNDM双胎患儿的临床资料和基因测序结果。同时检索建库至2020年2月的中国知网数据库、万方数据库及PubMed数据库,复习相关文献。结果双胎均为女性,生后24小时内出现血糖升高,伴巨舌、脐疝。基因检测提示双胎儿均在ZFP57基因上存在2个杂合变异;c.458 delT移码变异,来源于患儿母亲;830A>G(p.H 277R)错义变异,来源于患儿父亲。结论ZFP57基因是诊断TNDM的重要决定因素,也是了解多位点印记紊乱(MLID)遗传驱动的关键因素。

Objective To explore the clinical and gene mutation characteristics of transient neonatal diabetes mellitus(TNDM)caused by ZFP57 gene mutation.Methods The clinical data and gene sequencing results of a pair of TNDM twins caused by ZFP57 gene mutation admitted in December 2019 were retrospectively analyzed.At the same time,the CNKI database,Wanfang database and PubMed database were searched by the time range from the establishment of the database to February 2020,and relevant literatures were reviewed.Results Both twins were female and had hyperglycemia within 24 hours after birth,accompanied by giant tongue and umbilical hernia.Genetic tests revealed that both fetuses had two heterozygous mutations in ZFP57 gene,the frameshift variant of c.458 delT originated from the mother and the missense variant of 830 A>G(p.H 277 R)originated from the father.Conclusion The ZFP57 gene is an important determinant in the diagnosis of TNDM and also a key factor in understanding the genetic drivers of multilocus imprinting disturbance(MLID).