Open AccessNovel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula: A case report and review of literature
Author(s) -
Abdullah Al-Ajmi,
Sarah Shamsah,
A. Janićijević,
M Williams,
Fahd Al-Mulla
Publication year - 2020
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v8.i8.1477
Subject(s) - frameshift mutation , ataxia , medicine , exome sequencing , genetics , cerebellar ataxia , disease gene identification , mutation , genetic testing , gene , biology , psychiatry
Familial cases of autosomal recessive spastic ataxia of charlevoix-saguenay have not been reported in the Arabian Peninsula, although the consanguineous marriage rate is very high. We report the first family from the Arabian Peninsula harboring a novel frameshift mutation in the SACS gene.