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Journals / Düşünen Adam - Psikiyatri ve Nörolojik Bilimler Dergisi / 2020 / Cilt: 33 - Sayı: 1

Typical Rett Syndrome in a young boy with hemizygous c.316C>T mutation in MECP2 gene

Murat COSKUN
Ilyas KAYA
Zeynep Nur GULLE
Seda ERBİLGİN
Ibrahim AKALİN
Afig BERDELİ
Pages
99–103
DOI
—
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AI Summary & Key Takeaways

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

To the best of our knowledge, this is the first case report of RTT in a young boy with a hemizygous c.316C>T mutation in the MECP2 gene.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Mutations in the Methyl-CpG-binding protein 2 (MECP2) gene have been implicated in the etiology of Rett syndrome (RTT), a neurodevelopmental disorder that primarily affects girls.
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Key Findings & Data:MECP2 mutations in males, once thought to be lethal, are now recognized with a broad spectrum of clinical manifestations.
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Conclusion & Impact:To the best of our knowledge, this is the first case report of RTT in a young boy with a hemizygous c.316C>T mutation in the MECP2 gene.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Özet

Mutations in the Methyl-CpG-binding protein 2 (MECP2) gene have been implicated in the etiology of Rett syndrome (RTT), a neurodevelopmental disorder that primarily affects girls. MECP2 mutations in males, once thought to be lethal, are now recognized with a broad spectrum of clinical manifestations. Here we report a 3-year-old boy who presented with developmental problems and regression and eventually was diagnosed with RTT that genetic analysis revealed to be a hemizygous c.316C>T missense mutation in the MECP2 gene suggesting somatic mosaicism with the normal 46,XY karyotype. DNA analysis of the patient’s mother showed this either to be a de novo mutation or a case of gonadal mosaicism. To the best of our knowledge, this is the first case report of RTT in a young boy with a hemizygous c.316C>T mutation in the MECP2 gene.

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Cite This Article

COSKUN, M., KAYA, I., GULLE, Z. N., ERBİLGİN, S., AKALİN, I., BERDELİ, A. (2020). Typical Rett Syndrome in a young boy with hemizygous c.316C>T mutation in MECP2 gene. Düşünen Adam - Psikiyatri ve Nörolojik Bilimler Dergisi, Cilt: 33 - Sayı: 1, 99–103. https://ajindex.com/articles/150622

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