Türkiye’nin Güneydoğu Anadolu Bölgesindeki Distoni Genetiği

Öz

Amaç: Distoni, distoninin belirgin bir özellik olduğu hiperkinetik hareket bozukluklarını tanımlamak için kullanılan bir terimdir. Etiyolojiye bağlı olarak distoni, edinilmiş, kalıtsal veya idiyopatik olabilir. Bu yollarda genellikle rol oynayan distoni genleri, izole, kompleks ve kombine distoni genleri olarak sınıflandırılır. Bu çalışmada, 60 hastada distoninin genetik nedenlerini tüm eksom dizileme (WES) ile araştırdık. Elde edilen sonuçların genotip-fenotip korelasyonu yapıldı. Materyal ve Metod: Çalışmaya, 2021 ile 2025 yılları arasında Harran Üniversitesi Tıp Fakültesi Hastanesi’ne sevk edilen 60 hasta (25 kadın, 35 erkek) dahil edildi. Hastalar distoni semptomlarının varlığına göre seçildi. WES uyguladık ve önerilen kılavuzlara göre varyantları değerlendirdik. Bulgular: WES analizi, kohortun 17 hastasında (yaklaşık %28) patojenik veya muhtemelen patojenik mutasyonların varlığını ortaya çıkardı. Otuz yedi hasta (yaklaşık %62) klinik önemi belirsiz varyantlar (VUS) sergiledi. 6 hastada (%10) WES, distoni ile ilişkili herhangi bir varyasyon saptamadı. Sonuç: Bu çalışma, Güneydoğu Anadolu Bölgesi’nde distoninin tanı ve tedavisinde genetik testlerin önemli rolünü vurgulamaktadır. Spesifik genetik varyantların tanımlanması, kişiselleştirilmiş tedavi stratejilerinin uygulanmasını kolaylaştırır ve bu da tedavi sonuçlarını iyileştirme ve yan etkileri azaltma potansiyeline sahiptir.

Anahtar Kelimeler

• Distoni
• Tüm ekzom dizileme
• WES
• NGS

Dystonia Genetics in the Southeastern Anatolia Region of Türkiye

Öz

Background: Dystonia is a term used to describe hyperkinetic movement disorders in which dystonia is the prominent feature. Depending on the aetiology, dystonia may be acquired, inherited, or idiopathic. The dystonia genes that are usually involved in these pathways are classified as isolated, complex, and combined dystonia genes. In this study, we investigate the genetic causes of dystonia in 60 patients by whole-exsome sequencing (WES). Genotype-phenotype correlation of the obtained results was performed. Materials and Methods: Sixty patients (25 females, 35 males) were included in the study who were referred to Harran University Medical Faculty Hospital between 2021 and 2025. Patients were selected based on the presence of symptoms of dystonia. We performed WES and evaluated the variants with recommended guidelines. Results: WES analysis revealed the presence of pathogenic or likely pathogenic mutations in 17 patients (approximately 28%) of the cohort. 37 patients (approximately 62%) exhibited variants of uncertain clinical significance (VUS). In 6 patients (10%), WES did not reveal any variations associated with dystonia. Conclusions: This study emphasises the pivotal function of genetic testing in the diagnosis and management of dystonia in the southern-eastern Anatolian region. The identification of specific genetic variants facilitates the implementation of personalised treatment strategies, which has the potential to enhance therapeutic outcomes and reduce adverse effects.

Anahtar Kelimeler

• Dystonia
• Whole-exome sequencing
• WES
• NGS

Etik Beyan

This study was approved by the Harran University Clinical Research Ethics Committee (approval no: HRÜ/25.09.55, date: May 12, 2025).

Kaynakça

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