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Published on: September 2, 2019
SQSTM1 mutation: Description of the first Tunisian case and literature review
1LR18SP04, Department of Child and Adolescent Neurology, University of Tunis El Manar, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.
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 c.823_824del(p.Ser275Phefs*17) in SQSTM1 gene (GenBank: NM_003900.4).
Conclusion:
By pooling our data to the data of literature, we delineated the phenotypic spectrum and stressed on genetic heterogeneity of this rare neurodegenerative disease.
