Recognition of maturity-onset diabetes of the young in China.

ABSTRACT:

Aims/introduction

Given that mutations related to maturity-onset diabetes of the young (MODY) are rarely found in Chinese populations, we aim to characterize the mutation spectrum of MODY pedigrees.

Materials and methods

Maturity-onset diabetes of the young candidate gene- or exome-targeted capture sequencing was carried out in 76 probands from unrelated families fulfilling the clinical diagnostic criteria for MODY. MAF <0.01 in the GnomAD or ExAC database was used to filter significant variants. Sanger sequencing was then carried out to validate findings. Function prediction by SIFT, PolyPhen-2 and PROVEAN or CADD was carried out in missense mutations.

Results

A total of 32 mutations in six genes were identified in 31 families, accounting for 40.79% of the potential

SUBMITTER: Liang H 

PROVIDER: S-EPMC8015824 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature