Pharmacogenomics and Personalized Medicine (Dec 2022)
Clinical Characteristics and Gene Mutations of Two Families with MODY 3 in Inner Mongolia
Abstract
Xiao-Yan Ren,1,* Meng-Ruo Xue,2,* Zhao-Li Yan,1 Shao-Jie Zhang,3 Min Liu,1 Ai-Zhen Li1 1Department of Endocrinology, Affiliated Hospital of Inner Mongolia Medical University, Hohhot, 010050, People’s Republic of China; 2Department of Interventional Radiology, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, 010050, People’s Republic of China; 3Department of Anatomy, Inner Mongolia Medical University, Hohhot, 010050, People’s Republic of China*These authors contributed equally to this workCorrespondence: Zhao-Li Yan, Department of Endocrinology, Affiliated Hospital of Inner Mongolia Medical University, No. 1, North Tongdao Street, Huiming District, Hohhot, 010050, People’s Republic of China, Tel +86 13848177245, Email [email protected]: 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 carried a missense mutation on exon 2 (c.391C>t, p.Arg131Trp), and all had MODY 3. The blood glucose control in these patients was stable while they were being treated with oral sulfonylurea hypoglycemic drugs alone or with insulin. Uncle II had serious macrovascular and microvascular complications.Conclusion: Maturity-onset diabetes of the young 3 gene mutations (c.512G>A, p.Arg171Gln) and (c.391C>T, p.Arg131Trp) may be the main pathogenic genes of the two families with MODY 3. The two gene mutations found in this study have not been reported previously in China.Keywords: gene, HNF1α, MODY, c.512G>A, (Arg171Gln), c.391C>T, (Arg131Trp)
