A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.
Hum Genome Var
; 4: 17052, 2017.
Article
in En
| MEDLINE
| ID: mdl-29081981
ABSTRACT
A Japanese family with autosomal recessive cerebellar ataxia type 8 (SCAR8, MIM 610743) is described. We identified a novel SYNE1 frameshift deletion (c.6843del, p.Q2282Sfs*3). This family shared similar clinical manifestations characterized by adult-onset, relatively pure cerebellar ataxia with mild eye movement abnormality. Intelligence and bulbar and respiratory functions were unaffected. This study suggests the clinical utility of using panel-based exome sequencing for genetic diagnosis in hereditary ataxias in a cost-efficient manner.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Hum Genome Var
Year:
2017
Document type:
Article
Affiliation country:
Japan