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Journals / Erciyes Medical Journal / 2021 / Cilt: 43 - Sayı: 5

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

Şenol ÇİTLİ
Berna HEKİMOĞLU
Pages
502–504
Publication Date
2022-10-11
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Advanced genetic evaluation is vital forearly diagnosis and intervention in patients with chromosome 6q duplication

📌 3 Key Takeaways

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Objective & Hypothesis:Background: Neonatal diabetes mellitus (NDM) is a rare form of diabetes.
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Key Findings & Data:The chromosomal microarray analysis detected a rare de novo duplication of 3383 kb in the 6q24.1q24.2 region.
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Conclusion & Impact:Advanced genetic evaluation is vital forearly diagnosis and intervention in patients with chromosome 6q duplication
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

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

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Cite This Article

ÇİTLİ, Ş., HEKİMOĞLU, B. (2022). A Rare Duplication in the PLAG1 Gene: A Case ofNeonatal Diabetes. Erciyes Medical Journal, Cilt: 43 - Sayı: 5, 502–504. https://ajindex.com/articles/502197

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