Mutation analysis of the GLUD1 gene in patients with glutamate dehydrogenase congenital hyperinsulinism.
- Author:
Yan-mei SANG
1
;
Gui-chen NI
;
Gui-qin LIU
;
Min LIU
;
Yi GU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Asian Continental Ancestry Group; genetics; Base Sequence; China; Congenital Hyperinsulinism; enzymology; genetics; DNA Mutational Analysis; Exons; Female; Glutamate Dehydrogenase (NADP+); genetics; Humans; Infant; Male; Molecular Sequence Data; Mutation, Missense
- From: Chinese Journal of Medical Genetics 2010;27(5):493-496
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the glutamate dehydrogenase 1 (GLUD1) gene mutation of three patients diagnosed as glutamate dehydrogenase congenital hyperinsulinism (GDH-HI).
METHODSThree patients diagnosed as GDH-HI and their parents were involved in the study. PCR-DNA direct sequencing was used to analyze the exons 6,7,10,11 and 12 of the GLUD1 gene.
RESULTSIn the first case, an R269H heterozygous mutation was found in the GLUD1 gene, with autosomal dominant inheritance. In the second case, there was a de novo S445L heterozygous mutation of the GLUD1 gene. No mutation was detected in the third case.
CONCLUSIONIn Chinese, R269H, S445L heterozygous mutation of the GLUD1 gene can lead to GDH-HI. Genetic analysis is necessary in making genetic diagnosis of congenital hyperinsulinsm.
