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Journals / Turkish Neurosurgery / 2014 / Cilt: 24 - Sayı: 1

CARASıL Sendromunun Bir Unsuru Olarak Dejenere Omurgası Olan Bir Hastada HTRA1 Gen Mutasyonu

Mutation in the htRA1 Gene in a patient with Degenerated Spine as a Component of CARASIL Syndrome

FATİH BAYRAKLI
Hatice BALABAN
Mustafa GÜRELİK
Sami HİZMETLİ
Suat TOPAKTAŞ
Pages
67–69
DOI
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AI Summary & Key Takeaways

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

Patients with degenerated spine and progressive clinical symptoms must be evaluated or reevaluated for other central nervous system symptoms and signs to rule out other diseases or syndromes

📌 3 Key Takeaways

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Objective & Hypothesis:AIm: To show the mutation in HTRA1 gene in a patient suffering from CARASIL syndrome with degenerated spine as a component of the disease. mAterIAl and methOds: We identified a family that one of the members had CARASIL syndrome in eastern Turkey and collected venous blood from available persons.
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Key Findings & Data:The HTRA1 gene sequenced in all family members. results: C to T transition at position 1108 (c.1108 C>T) in exon 6, causing stop codon formation (R370X) was seen in the HTRA1 gene in a homozygous state in the CARASIL patient whereas it was heterozygous in other healthy family members.
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Conclusion & Impact:Patients with degenerated spine and progressive clinical symptoms must be evaluated or reevaluated for other central nervous system symptoms and signs to rule out other diseases or syndromes
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

AIm: To show the mutation in HTRA1 gene in a patient suffering from CARASIL syndrome with degenerated spine as a component of the disease. mAterIAl and methOds: We identified a family that one of the members had CARASIL syndrome in eastern Turkey and collected venous blood from available persons. The HTRA1 gene sequenced in all family members. results: C to T transition at position 1108 (c.1108 C>T) in exon 6, causing stop codon formation (R370X) was seen in the HTRA1 gene in a homozygous state in the CARASIL patient whereas it was heterozygous in other healthy family members. COnClusIOn: We demonstrated homozygous c.1108 C>T mutation in the HTRA1 gene causing a very rare syndrome, especially in the nonJapanese population, called CARASIL. Patients with degenerated spine and progressive clinical symptoms must be evaluated or reevaluated for other central nervous system symptoms and signs to rule out other diseases or syndromes

Özet

AmAÇ: CARASIL sendromu barındıran ve hastalığın bir unsuru olarak dejenere omurgası olan hastada HTRA1 genindeki mutasyonu göstermek. yÖntem ve GereÇler: Bireylerinden birinde CARASIL sendromu olan aileyi doğu Türkiye'de bulduk ve varolan tüm bireylerden venöz kan aldık. Tüm aile bireylerinde HTRA1 geni dizilendi. BulGulAr: Genin 6. ekzonunda 1108. pozisyonda C'den T'ye (c.1108 C>T) stop kodon oluşumuna yol açan (R370X) değişim görüldü. Bu değişim hasta bireyde homozigot, diğer aile bireylerinde heterozigot durumdaydı. sOnuÇ: Japon popülasyonu dışında çok nadir görülen ve CARASIL olarak adlandırılan bir sendroma neden HTRA1 geninde homozigot c.1108 C>T homozigot mutasyonu gösterdik. Dejenere omurgası olan ve ilerleyici klinik semptomları bulunan hastalar santral sinir sisteminin diğer semptom ve ve bulguları farklı bir hastalık ve sendromunun olup olmadığını ortaya koymak için değerlendirilmeli ve tekrar muayene edilmelidir

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Cite This Article

BAYRAKLI, F., BALABAN, H., GÜRELİK, M., HİZMETLİ, S., TOPAKTAŞ, S. (2014). CARASıL Sendromunun Bir Unsuru Olarak Dejenere Omurgası Olan Bir Hastada HTRA1 Gen Mutasyonu. Turkish Neurosurgery, Cilt: 24 - Sayı: 1, 67–69. https://ajindex.com/articles/404883

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