A family with hyperinsulinemia caused by a novel mutation of SLC16A1 gene
10.3760/cma.j.cn311282-20220418-00241
- VernacularTitle:SLC16A1基因新突变致高胰岛素血症家系临床及遗传特征分析
- Author:
Liling ZHAO
1
;
Yujun WANG
;
Ping JIN
Author Information
1. 中南大学湘雅三医院内分泌科，长沙 410007
- Keywords:
Congenital hyperinsulinism;
SLC16A1;
Obesity;
Mutation
- From:
Chinese Journal of Endocrinology and Metabolism
2023;39(6):473-478
- CountryChina
- Language:Chinese
-
Abstract:
Objective:Congenital hyperinsulinemia is a heterogeneous disorder characterized by severe hypoglycemia due to dysregulated insulin secretion. Sixteen genes have been reported to be associated with congenital hyperinsulinemia. In this study, whole exome sequencing was performed on a patient with obesity, hyperinsulinemia, and postprandial hypoglycemia to further explore its genetic etiology.Methods:The clinical data and peripheral blood of a patient with hyperinsulinemia and his family members were collected. Genomic DNA was extracted from the peripheral blood. Sanger sequencing and pedigree verification were performed on the pathogenic variants filtered by whole-exome sequencing. The function of the mutation sites was analyzed by bioinformatics software.Results:The proband presented with obesity, hyperinsulinemia, and postprandial hypoglycemia, but without exercise-induced hypoglycemia. A heterozygous SCL16A1 gene c. 1259A>G(p.K420R) mutation was identified in the proband. Co-segregated analysis showed that the c. 1259A>G mutation was also found in his father and brother, who had obesity and hyperinsulinemia, which was consistent with autosomal dominant inheritance. The mutation c. 1259A>G was predicted to be pathogenic by the MutationTaster, FATHMM-MKL, PolyPhen2, and CADD programs, and has not been reported in HGDM database yet, which was considered to be a novel mutation.Conclusion:This study reported a patient with hyperinsulinemia caused by a new mutation of SCL16A1 gene, which expanded our understanding of the pathogenic mutation spectrum of hyperinsulinemia.
