Another de novo mutation in the SOD1 gene: the first Turkish patient with SOD1-His47Arg, a case report

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Bayraktar E., Çiftçi V., UYSAL H., Başak A. N.

Frontiers in Genetics, cilt.14, 2023 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 14
  • Basım Tarihi: 2023
  • Doi Numarası: 10.3389/fgene.2023.1208673
  • Dergi Adı: Frontiers in Genetics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, Veterinary Science Database, Directory of Open Access Journals
  • Anahtar Kelimeler: de novo mutation, fALS, His47Arg, sALS, SOD1
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Akdeniz Üniversitesi Adresli: Evet

Özet

Amyotrophic lateral sclerosis (ALS) is a fatal, progressive neurodegenerative disease of motor neurons. Most ALS cases are considered sporadic due to the presence of a combination of environmental and complex genetic risk factors, while approximately 10% of cases have a family history. Pathogenic variants in the SOD1 gene are the second most frequent causative factor of genetics-based ALS worldwide, after C9ORF72 hexanucleotide repeat expansion. The De novo occurrence of pathogenic mutations in ALS-associated genes and its effect on disease progression have been studied previously, especially in the FUS gene. Recent studies have shown that a very small portion of SOD1 cases occurred de novo. Here, we present the first de novo case of the SOD1 His47Arg mutation in a young female patient with mild symptoms and, currently, a slow progression for 7 years.