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Journals / Ege Tıp Dergisi / 2002 / Cilt: 41 - Sayı: 1

Molecular diagnosis in spinal muscular atrophy: Applications at a reference center in Aegean region

Spinal müsküler atrofi'de moleküler tanı: Ege bölgerinde bir referans merkezindeki uygulamalar

SACİDE PEHLİVAN
Ferda ÖZKINAY
SAVAŞ İZZETOĞLU
Özgür ÇOĞULU
Arife KUNT
TUFAN ÇANKAYA
Eren DEMİRTAŞ
Sarenur TÜTÜNCÜOĞLU
Pages
7–10
DOI
—
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AI Summary & Key Takeaways

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

In two patients out of 18 patients no deletion could be detected in the genes investigated.

📌 3 Key Takeaways

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Objective & Hypothesis:Spinal Muscular Atrophy (SMA) neurodegenerative disorde (SMA) is one of the most common autosomal recessive neurodegenerative disorders.
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Key Findings & Data:In this study, 18 patients diagnosed to have SMA by pediatric neurologist were investigated for telomeric-Survival Motor Neuron (tSMN) and Neuronal Apoptosis Inhibitory Protein (NAIP) gene deletions.
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Conclusion & Impact:In two patients out of 18 patients no deletion could be detected in the genes investigated.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Nörodejeneratif hastalıklar · Tanı teknik ve işlemleri · Gen parçası kaybı

Abstract

Spinal Muscular Atrophy (SMA) neurodegenerative disorde (SMA) is one of the most common autosomal recessive neurodegenerative disorders. In this study, 18 patients diagnosed to have SMA by pediatric neurologist were investigated for telomeric-Survival Motor Neuron (tSMN) and Neuronal Apoptosis Inhibitory Protein (NAIP) gene deletions. Among 18 patients, 8 had both exon 7 and 8 deletions of SMN gene and exon 6 deletion of NAIP gene. Six patients had exon 7 and 8 deletions of tSMN. Two patients who were sibling had only exon 7 deletions of tSMN gene. In two patients out of 18 patients no deletion could be detected in the genes investigated.

Özet

Spinal Müsküler Atrofi (SMA) dünyada sık görülen, otozomal resesif geçişli nörodejeneratif bir hastalıktır. Bu çalışmada, çocuk nörologları tarafından SMA tanısı konan 18 hastada telomerik-Survival Motor Nöron (tSMN) ve Nöral Apoptosi İnhibitör Proteini (NAİP) gen delesyon analizleri yapılmıştır. Onsekiz hastanın 8'inde hem tSMN geni ekzon 7 ve 8 hem de NAİP geni ekzon 6 delesyonu saptanmıştır. Altı hastada tSMN geni ekzon 7 ve 8 delesyonları gözlenirken, kardeş olan 2 hastada yalnız tSMN geni ekzon 7 delesyonu bulunmuş fakat ekzon 8 delesyonu görülmemiştir. İki hastada her 2 gende analizi yapılan ekzonlarda delesyon saptanmamıştır.

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Cite This Article

PEHLİVAN, S., ÖZKINAY, F., İZZETOĞLU, S., ÇOĞULU, Ö., KUNT, A., ÇANKAYA, T., DEMİRTAŞ, E., TÜTÜNCÜOĞLU, S. (2002). Molecular diagnosis in spinal muscular atrophy: Applications at a reference center in Aegean region. Ege Tıp Dergisi, Cilt: 41 - Sayı: 1, 7–10. https://ajindex.com/articles/223043

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