Monogenic causes in the type 1 diabetes genetics consortium cohort; low genetic risk for autoimmunity in case selection
Journal of Clinical Endocrinology and Metabolism Feb 12, 2021
Marchand L, Li M, Leblicq C, et al. - Since the distinction has important clinical consequences, but it is important to select patients to test due to the low prevalence and high cost of testing, researchers tested the assumption that low genetic risk for type 1 diabetes would significantly contribute to this selection. Forty-six families that fulfilled the requirements were analyzed. The results support carrying out large-scale prospective screening studies using autoimmunity markers, including in the absence of a parent affected. They also confirm that, among cases of monogenic diabetes misdiagnosed as type 1 diabetes, non-syndromic WFS1 variants are prevalent.
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