ISSN: 2149-2247 | E-ISSN: 2149-2549
Erciyes Medical Journal A Rare Duplication in the PLAG1 Gene: A Case of Neonatal Diabetes [Erciyes Med J]
Erciyes Med J. 2021; 43(5): 502-504 | DOI: 10.14744/etd.2020.43799

A Rare Duplication in the PLAG1 Gene: A Case of Neonatal Diabetes

Berna Hekimoğlu1, Şenol Çitli2
1Division of Neonatology, Department of Pediatrics, University of Health Sciences Turkey, Kanuni Training and Research Hospital, Trabzon, Turkey
2Department of Medical Genetics, Gaziosmanpaşa University Faculty of Medicine, Tokat, Turkey

Background: Neonatal diabetes mellitus (NDM) is a rare form of diabetes. It occurs due to several different genetic abnormalities, and two main groups have been recognized, transient and permanent. Although insulin is often used as a first-line treatment 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 days of 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. This report describes a rare deletion that has not been described in the literature to date. Advanced genetic evaluation is vital for early diagnosis and intervention in patients with chromosome 6q duplication.

Keywords: Transient neonatal diabetes, 6q24, sulfonylurea treatment, duplication.

Berna Hekimoğlu, Şenol Çitli. A Rare Duplication in the PLAG1 Gene: A Case of Neonatal Diabetes. Erciyes Med J. 2021; 43(5): 502-504

Corresponding Author: Berna Hekimoğlu, Türkiye
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