Article
SQSTM1 mutation: Description of the first Tunisian case and literature review.
Molecular genetics & genomic medicine - 1 Dec 2020
Akkari M, Kraoua I, Klaa H, Benrhouma H, Ben Younes T, Rouissi A, Chaabouni M, Ben Youssef-Turki I
Abstract excerpt
BACKGROUND: 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. METHODS AND RESULTS: 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...
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