A Rare Duplication in the PLAG1 Gene: A Case ofNeonatal Diabetes

Abstract

Background: Neonatal diabetes mellitus (NDM) is a rare form of diabetes. It occurs due to several different genetic abnor malities, and two main groups have been recognized, transient and permanent. Although insulin is often used as a first-linetreatment for transient types, this mode of therapy is not helpful in some cases. Case Report: We present a newborn case treated with oral sulfonylurea diagnosed as transient type NDM in the first daysof life. The chromosomal microarray analysis detected a rare de novo duplication of 3383 kb in the 6q24.1q24.2 region. Conclusion: An oral sulfonylurea treatment is a useful treatment option in the management of neonatal diabetes cases. Thisreport describes a rare deletion that has not been described in the literature to date. Advanced genetic evaluation is vital forearly diagnosis and intervention in patients with chromosome 6q duplication