SQSTM1 mutation: Description of the first Tunisian case and literature review. Issue 12 (2nd November 2020)

• Record Type: Journal Article
• Authors: Akkari, M.; Kraoua, I.; Klaa, H.; Benrhouma, H.; Ben Younes, T.; Rouissi, A.; Chaabouni, M.; Ben Youssef‐Turki, I.
• Is Part Of: Molecular genetics & genomic medicine. Volume 8:Issue 12(2020)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2020-11-02
• Subjects: cognitive decline -- degenerative ataxia -- dystonia -- ophthalmoparesis -- SQSTM1 mutation; Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.1543
• Languages: English
• ISSNs: 2324-9269

Abstract

Abstract: 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. Abstract : Mutations in SQSTM1 gene have been recently identified as a rare cause of progressive childhood neurodegenerative disorder. We report on the first Tunisian case of an 11‐year‐old girl with cerebellar ataxia, chorea and ophthalmoparesis.