A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay

Samanci B., Gokalp E. E., BİLGİÇ B., GÜRVİT İ. H., ARTAN S., Hanagasi H. A.

Neurological Sciences, vol.42, no.7, pp.2969-2973, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 42 Issue: 7
  • Publication Date: 2021
  • Doi Number: 10.1007/s10072-021-05117-1
  • Journal Name: Neurological Sciences
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CINAHL, EMBASE, Index Islamicus, MEDLINE, Psycinfo
  • Page Numbers: pp.2969-2973
  • Keywords: ARSACS, Ataxia, Autosomal recessive spastic ataxia of Charlevoix-Saguenay, Genetic, SACS
  • Eskisehir Osmangazi University Affiliated: Yes

Abstract

© 2021, Fondazione Società Italiana di Neurologia.Loss-of-function mutations in the sacsin (SACS) gene lead to autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), impairing the function of sacsin. Genotype-phenotype correlations are still unclear for the different mutations reported in ARSACS. Here, we present a Turkish ARSACS family in whom the novel homozygous frameshift mutation in SACS c.12461delC (p.Pro4154GlnfsTer20) was detected by next-generation sequencing (NGS). The index patient was admitted with progressive spastic ataxia and dysarthria. Since no common mutation in autosomal recessive (AR) cerebellar ataxias, whole gene sequencing provide an advantage to detect novel mutations and may be more effective for clinical diagnosis.