A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Neurol Sci
; 42(7): 2969-2973, 2021 Jul.
Article
em En
| MEDLINE
| ID: mdl-33559790
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Ataxias Espinocerebelares
/
Proteínas de Choque Térmico
Limite:
Humans
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article