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Clinical characteristics, molecular features, and long-term follow-up of 15 patients with neonatal diabetes: A single-centre experience

Hormone Research in Paediatrics Jan 29, 2021

Abali ZY, De Franco E, Karakilic Ozturan E, et al. - Since the most common cause of permanent neonatal diabetes mellitus (NDM) is mutations in the KCNJ11, ABCC8, and INS genes, researchers sought to analyze the clinical features and underlying genetic cause of disease in 15 people with diabetes onset before 6 months of age as defined by sustained hyperglycaemia requiring insulin treatment. Fifteen NDM patients from 14 unrelated families, including 10 with reported parental consanguinity, were reported. KATP channel mutations (ABCC8/KCNJ11) were more common than EIF2AK3 mutations, although the number of people born to consanguineous parents was considerably high in this cohort. Because of the possible effect on treatment and prognosis, genetic analyses should be conducted in all NDM cases.

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