%0 Case Reports
%T SQSTM1 mutation: Description of the first Tunisian case and literature review.
%A Akkari M
%A Kraoua I
%A Klaa H
%A Benrhouma H
%A Ben Younes T
%A Rouissi A
%A Chaabouni M
%A Ben Youssef-Turki I
%J Mol Genet Genomic Med
%V 8
%N 12
%D 12 2020
%M 33135846
%F 2.473
%R 10.1002/mgg3.1543
%X Mutations in SQSTM1 gene have been recently identified as a rare cause of progressive childhood neurodegenerative disorder. So far, only 25 patients from 10 unrelated families were reported.<BR>We report on the first Tunisian case of an 11-year-old girl with cerebellar ataxia, chorea and ophthalmoparesis. Brain MRI was normal. Whole-exome sequencing revealed a homozygous mutation c.823_824del(p.Ser275Phefs*17) in SQSTM1 gene (GenBank: NM_003900.4).<BR>By pooling our data to the data of literature, we delineated the phenotypic spectrum and stressed on genetic heterogeneity of this rare neurodegenerative disease.