Chromosome 4q D4Z4 contraction status in Turkish patients with facioscapulohumeral muscular dystrophy

Ceren Hangül; Özge Burcu Şahan; Sibel Karaüzüm; Elizabeta Sauer; Hilmi Uysal; Filiz Koç

doi:10.17826/cumj.1736413

EN TR

Chromosome 4q D4Z4 contraction status in Turkish patients with facioscapulohumeral muscular dystrophy

Abstract

Purpose: This study aimed to provide an updated overview of the genetic and clinical features of patients with facioscapulohumeral muscular dystrophy1 (FSHD1) followed between 2006 and 2025 in the Mediterranean region of Turkey. Materials and Methods: A total of 46 patients diagnosed as having FSHD1 through Southern blot analysis were included. The cohort consisted of 26 males and 20 females, with a mean age of 32.93 ± 17.01 years. Clinical severity scores (CSS) and age-corrected CSS (ACSS) were assessed based on neurologic examinations. Results: The most frequent D4Z4 repeat size was 4 units (30.4%). Although CSS and ACSS appeared lower in female patients, the difference was not statistically significant. Patients aged under 30 years exhibited significantly lower CSS and ACSS compared with those aged over 30 years. A strong correlation was observed between age and both CSS and ACSS; no significant correlation was found between D4Z4RU and clinical severity. Among the 46 patients, 20 families were represented, and one patient had a de novo mosaic mutation. Conclusion: Our findings highlight the importance of longitudinal and population-specific data in understanding FSHD. Increased molecular diagnosis and regular follow-up of patients may facilitate future research and the development of targeted therapies.

Keywords

Facioscapulohumeral Muscular Dystrophy , FSHD1 , Southern Blot , D4Z4 repeat contraction , Genotype phenotype correlation , Clinical Severity , Diagnosis , 4qter

Türk fasiyoskapulohumeral müsküler distrofi hastalarında kromozom 4q D4Z4 kontraksiyon durumu

Öz

Amaç: Bu çalışmada, 2006–2025 yılları arasında Türkiye’nin Akdeniz bölgesinde takip edilen Fasiyoskapulohumeral müsküler distrofi 1 (FSHD1) hastalarının genetik ve klinik özelliklerine dair güncel bir değerlendirme sunulması amaçlanmıştır. Gereç ve Yöntem: Southern blot analizi ile FSHD1 tanısı alan toplam 46 hasta çalışmaya dahil edilmiştir. Kohort, yaş ortalaması 32,93 ± 17,01 yıl olan 26 erkek ve 20 kadından oluşmaktadır. Klinik Şiddet Skoru (CSS) ve yaşa göre düzeltilmiş CSS (ACSS), nörolojik muayeneler temelinde değerlendirilmiştir. Bulgular: En sık gözlenen D4Z4 tekrar sayısı 4 olup, hastaların %30,4’ünde saptanmıştır. Kadın hastalarda CSS ve ACSS değerleri daha düşük görünmekle birlikte, bu fark istatistiksel olarak anlamlı bulunmamıştır. 30 yaş altındaki hastalarda CSS ve ACSS değerleri, 30 yaş üzerindekilere kıyasla anlamlı düzeyde daha düşük bulunmuştur. Yaş ile hem CSS hem de ACSS arasında güçlü bir pozitif korelasyon gözlenmiştir, buna karşın D4Z4RU ile klinik şiddet arasında anlamlı bir ilişki saptanmamıştır. Kohortta 20 farklı aile yer almakta olup, bir olguda mozaik yapıda de novo mutasyon tespit edilmiştir. Sonuç: Elde edilen bulgular, FSHD'nin daha iyi anlaşılabilmesi için longitudinal ve popülasyona özgü verilere duyulan ihtiyacı vurgulamaktadır. Moleküler tanı oranlarının artırılması ve hastaların düzenli takibi, gelecekteki araştırmaların ve hedefe yönelik tedavi stratejilerinin geliştirilmesine katkı sağlayabilir.

Anahtar Kelimeler

Fasioskapulohumeral Kas Distrofisi , FSHD1 , Southern Blot , D4Z4 tekrar kasılması , Genotip fenotip korelasyonu , Klinik Şiddet , Tanı , 4qter

Kaynakça

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Ayrıntılar

Birincil Dil

İngilizce

Konular

Tıbbi Genetik (Kanser Genetiği hariç) , Nöroloji ve Nöromüsküler Hastalıklar

Bölüm

Araştırma Makalesi

Yazarlar

Ceren Hangül ^*
0000-0001-6869-8802
Türkiye

Özge Burcu Şahan
0000-0003-4275-7688
Türkiye

Sibel Karaüzüm
0000-0001-6415-3215
Türkiye

Elizabeta Sauer
0009-0009-8770-3369
Germany

Hilmi Uysal
0000-0002-6063-377X
Türkiye

Filiz Koç
0000-0001-8594-7540
Türkiye

Yayımlanma Tarihi

30 Eylül 2025

Gönderilme Tarihi

7 Temmuz 2025

Kabul Tarihi

23 Ağustos 2025

Yayımlandığı Sayı

Yıl 1970 Cilt: 50 Sayı: 3

DOI

https://doi.org/10.17826/cumj.1736413

IZ

https://izlik.org/JA72JA82BL

MLA

Hangül, Ceren, vd. “Chromosome 4q D4Z4 contraction status in Turkish patients with facioscapulohumeral muscular dystrophy”. Cukurova Medical Journal, c. 50, sy 3, Eylül 2025, ss. 702-11, doi:10.17826/cumj.1736413.

Bu eser Creative Commons Atıf-Gayriticari-Türetilemez 4.0 Uluslararası Lisansı ile lisanslanmıştır.

Chromosome 4q D4Z4 contraction status in Turkish patients with facioscapulohumeral muscular dystrophy

Abstract

Keywords

Türk fasiyoskapulohumeral müsküler distrofi hastalarında kromozom 4q D4Z4 kontraksiyon durumu

Öz

Anahtar Kelimeler

Kaynakça

Ayrıntılar

Birincil Dil

Konular

Bölüm

Yazarlar

Yayımlanma Tarihi

Gönderilme Tarihi

Kabul Tarihi

Yayımlandığı Sayı

DOI

IZ

Kaynak Göster