关键词: ： ZFP57基因； 新生儿暂时性糖尿病； 基因变异

Abstract: Objective To explore the clinical and gene mutation characteristics of transient neonatal diabetes mellitus (TNDM) caused by ZFP 57 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 277R) 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).

Key words: ZFP57 gene; transient neonatal diabetes mellitus; gene mutation