SQSTM1 mutation: Description of the first Tunisian case and literature review.

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.

SUBMITTER: Akkari M 

PROVIDER: S-EPMC7767559 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature