The Genotype-Phenotype Correlation in Children with Duchenne Muscular Dystrophy: Single Center Experience

Year 2020, Volume: 14 Issue: 6, 518 - 521, 30.11.2020

Gonca Bektaş , Gamze Başkent Melis Ulak Özkan Edibe Pembegül Yıldız Nur Aydınlı Mine Çalışkan Meral Özmen

https://doi.org/10.12956/tchd.568736

Cited By: 1

Abstract

Objective: Duchenne muscular dystrophy (DMD) is characterized by progressive muscle weakness caused by
mutations in the dystrophin gene. In this study, we aimed to investigate the relationship between different mutations in
the dystrophin gene and motor functions in children with DMD.

Material and Methods: Children with DMD followed-up between January 2016 and January 2018 were evaluated. Demographic data,
genetic mutations, duration of steroid treatment and 6-minute walk test results were recorded. The children were divided into three
groups according to the mutation in the dystrophin gene as deletion, duplication and point mutation. The 6-minute walk test results were
compared between the three groups.

Results: Thirty-three male patients with DMD at a mean age of 6.7 ± 2 years (4-11 years) were included in the study. Twenty-two patients
(67%) had deletion, 6 patients (18%) had duplication and 5 patients (15%) had point mutations. The mean duration of steroid treatment
was 1.6 ± 0.8 years (0.5 to 3 years) in 18 patients receiving steroid treatment. There were no significant differences between the three
groups in terms of age and steroid use (p> 0.05). The mean 6-minute walk test result was 324 ± 51 meters (220-427 meters), 326 ± 77
meters (264-440 meters) and 285 ± 38 meters (250-326 meters) in children with deletion, duplication and point mutation of the dystrophin
gene, respectively. Although the walking distance in 6-minute walk test was shorter in children with point mutation compared to the
children with deletion and duplication, there was no statistically significant difference observed between the 3 groups (p> 0.05).

Conclusion: There is no significant relationship between the type of mutation in the dystrophin gene and clinical course in children with DMD.
The progression rate of the DMD may show a difference.

Duchenne Musküler Distrofili Çocuklarda Genotip-Fenotip İlişkisi: Tek Merkez Deneyimi

Abstract

Amaç: Duchenne musküler distrofi (DMD), DMD genindeki mutasyonların neden olduğu ilerleyici kas güçsüzlüğü
ile seyreden bir hastalıktır. Bu çalışmada, DMD tanılı çocuklarda DMD genindeki farklı mutasyonlar ile
motor fonksiyonlar arasındaki ilişkiyi incelemeyi amaçladık.

Yöntem: Ocak 2016 ile Ocak 2018 tarihleri arasında DMD tanısı ile takip
edilen, yürüyebilen ve ek hastalığı olmayan çocuklar çalışmaya dahil edildi. Demografik
veriler, genetik mutasyon sonuçları, steroid kullanım süreleri ve 6 dakika
yürüme testi sonuçları kaydedildi. Çocuklar DMD
genindeki mutasyona göre delesyon, duplikasyon ve nokta mutasyona sahip olanlar
olarak 3 gruba ayrıldı. Üç grup arasında 6 dakika yürüme testi sonuçları
karşılaştırıldı.

Bulgular: DMD tanılı 33 erkek hasta çalışmaya dahil edildi, ortalama yaşları
6,7 ± 2 yıldı (4-11 yıl). Yirmi iki hastada (%67) delesyon, 6 hastada (%18)
duplikasyon, 5 hastada (%15) nokta mutasyon mevcuttu. Steroid tedavisi alan 18
hastanın ortalama steroid kullanma süresi 1,6 ± 0,8 yıldı (0,5-3 yıl). Üç grup
arasında yaş ve steroid kullanım süreleri açısından anlamlı farklılık
saptanmadı (p> 0,05). DMD geninde
delesyon, duplikasyon ve nokta mutasyon saptananların ortalama 6 dakika yürüme
mesafesi sırasıyla 324 ± 51 metre (220-427 metre), 326 ± 77 metre (264-440
metre) ve 285 ± 38 metreydi (250-326 metre). Altı dakika yürüme testi açısından
nokta mutasyon saptanan hastalarda delesyon ve duplikasyon saptanan hastalara
göre yürüme mesafesi daha kısa olmakla birlikte istatiksel olarak 3 grup
arasında anlamlı farklılık saptanmadı (p> 0,05).

Sonuç: DMD tanılı çocuklarda DMD
genindeki mutasyonun tipi ile klinik gidiş arasında anlamlı ilişki
bulunmamaktadır. Hastalığın ilerleme hızı benzer mutasyon tiplerinde dahi bireysel
farklılıklar gösterebilmektedir. 

Keywords

çocuk, distrofi, gen

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