• Screening for extremely rare pathogenic variants of monogenic diabetes using targeted panel sequencing

    1 month ago - By Springer

    Abstract
    Aims
    Maturity‐onset diabetes of the young is one of the rare monogenic forms of diabetes. To date, about 12 genes in the scientific literature are closely related to the occurrence of the disease phenotype. However, there is still a high prevalence of undiagnosed cases of so-called MODY-X whose genetic background is still unknown.
    Methods
    We performed tNGS for 523 patients with suspected MODY. Next 357 selected patients, in whom no damaging variants were found in 12 major genes causing MODY, were screened for the presence of pathogenic variants in four candidate genes. All data...
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