Research Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Bogatkova Str. 175/1, Novosibirsk, 630004, Russia. 2117409@mail.ru.
Earlier, GLIS3 gene polymorphisms have been shown to be associated with the development of maturity onset diabetes of the young (MODY). We screened GLIS3 gene sequences among patients with MODY to identify probably pathogenic variants by whole-exome sequencing. We estimated frequency of rare single-nucleotide variants in the coding region of GLIS3 in a Caucasian population and among individuals with carbohydrate metabolism disorders in Russia.
We identified 15 single-nucleotide variants in GLIS3. Three rare variants (minor allele frequency?