%0 Generic
%A H., Zeng
%A J.-G., Tang
%A Y.-F., Yang
%A Z.-P., Tan
%A J.-Q., Tan
%D 2017
%T Supplementary Material for: A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
%U https://karger.figshare.com/articles/dataset/Supplementary_Material_for_A_Novel_Homozygous_SACS_Mutation_Identified_by_Whole-Exome_Sequencing_in_a_Consanguineous_Family_with_Autosomal_Recessive_Spastic_Ataxia_of_Charlevoix-Saguenay/5151184
%R 10.6084/m9.figshare.5151184.v1
%2 https://karger.figshare.com/ndownloader/files/8768710
%K ARSACS
%K Consanguineous family
%K SACS
%K Spastic ataxia
%K Whole-exome sequencing
%X Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a hereditary neurological disorder mostly manifested with a classical triad: progressive early-onset cerebellar ataxia, lower limb pyramidal signs, and peripheral neuropathy. We employed whole-exome sequencing and bioinformatics to identify the genetic cause in an ARSACS patient from a consanguineous family. Based on whole-exome sequences of the patient and her healthy parents, a novel homozygous deletion variant (NM_014363: c.9495_9508del; p.F3166Tfs*9) in the SACS gene was identified in the patient. This frameshift mutation is predicted to generate a truncated sacsin protein, which results in the loss of the C-terminal 1,406 amino acids. Our study provides a potential genetic diagnosis for the patient and expands the spectrum of SACS mutations.
%I Karger Publishers