ArticlePharmacogenomics and personalized medicine2022
Clinical Characteristics and Gene Mutations of Two Families with MODY 3 in Inner Mongolia.
Article in Pharmacogenomics and personalized medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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 Results: In Family 1, the proband, mother, and uncle all carried the missense heterozygous mutation on exon 2 of the 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.
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