An ABCC8 gene mutation leading to the onset of KATP-congenital hyperinsulinism in a Chinese boy and his pedigree analysis
10.3760/cma.j.issn.1000-6699.2012.01.016
- VernacularTitle:ABCC8基因突变致ATP敏感性钾通道型先天性高胰岛素血症一例家系分析
- Author:
Yanmei SANG
;
Shuwen HU
;
Min LIU
;
Changhong LI
;
Shan BAO
- Publication Type:Journal Article
- Keywords:
Congenital hyperinsulinism;
ABCC8 gene;
KATP channel
- From:
Chinese Journal of Endocrinology and Metabolism
2012;28(1):51-53
- CountryChina
- Language:Chinese
-
Abstract:
ABCC8,KCNJ11,and GLUD1 gene mutations were investigated in a male patient with congenital hyperinsulinism and his parents were also investigated.A 1484 G＞A mutation was found in the 10th exon of ABCC8 gene in the patient,which leads to amino acid substitution at the 495 residue of the sulphonylurea receptor SUR1 protein.The patient's father also carried the same heterozygous inactive mutation,while the genotype of the mother was normal,indicating that the gene mutation of the patient was paternally inherited.According to that mutation,it is deduced that the patient may suffer from the focal type of congenital hyperinsulinism.
