Maturity-onset diabetes of the young caused by mutations of GCK and HNF-1B genes:Report of the pedigree in one case
Objective:To analyze the parent linkage of maturity-onset diabetes of the young(MODY)in a family with GCK and HNF-1B gene mutation.Methods:The whole-exome sequencing analysis was performed on the proband,including the parents and the younger brother,and the proposition were definitely confirmed as GCK-MODY combined with HNF-1B-MODY.Results:Both the patient and her mother had mutations of GCK and HNF-1B genes,and her brother had a mutation of GCK gene.Conclusion:Genetic testing is very important for the diagnosis of MODY,and early and correct diagnosis of MODY could reduce misdiagnosis and mistreatment as well as manage these patients well at an early stage.
maturity-onset diabetes of the youngglucokinasehepatocyte nuclear factor 1 B