Clinical Characteristics and Gene Mutations of Two Families with MODY 3 in Inner Mongolia.

ABSTRACT:

Objective

This study aimed to analyze the clinical characteristics and gene mutations of two families with maturity-onset diabetes of the young 3 (MODY 3) in Inner Mongolia.

Methods

Fifty-three patients in Inner Mongolia suspected of having MODY 3 were enrolled in this study according to clinical manifestations. Blood samples were collected, and all exons of the HNF1α gene were analyzed; the second-generation DNA of the splicing regions of the gene was determined by direct sequencing.

Results

In Family 1, the proband, mother, and uncle all carried the missense heterozygous mutation on exon 2 of the HNF1α gene (c.512G>A, p.Arg171Gln), and both the proband and uncle had MODY 3. In Family 2, the proband, grandfather, father, uncle I, and uncle II all carrie

SUBMITTER: Ren XY 

PROVIDER: S-EPMC9785186 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature