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

M Akkari; I Kraoua; H Klaa; H Benrhouma; T Ben Younes; A Rouissi; M Chaabouni; I Ben Youssef-Turki

doi:10.1002/mgg3.1543

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

Mol Genet Genomic Med. 2020 Dec;8(12):e1543. doi: 10.1002/mgg3.1543. Epub 2020 Nov 2.

Authors

M Akkari¹, I Kraoua¹, H Klaa¹, H Benrhouma¹, T Ben Younes¹, A Rouissi¹, M Chaabouni², I Ben Youssef-Turki¹

Affiliations

¹ LR18SP04, Department of Child and Adolescent Neurology, University of Tunis El Manar, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.
² Laboratory of Medical Analyzes and Human Genetics, Jasmins Medical Center, Tunis, Tunisia.

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.

Keywords: SQSTM1 mutation; cognitive decline; degenerative ataxia; dystonia; ophthalmoparesis.

Publication types

Case Reports
Review

MeSH terms

Brain / diagnostic imaging
Cerebellar Ataxia / genetics*
Cerebellar Ataxia / pathology
Child
Chorea / genetics*
Chorea / pathology
Female
Homozygote
Humans
Mutation*
Ophthalmoplegia / genetics*
Ophthalmoplegia / pathology
Phenotype*
Sequestosome-1 Protein / genetics*
Tunisia

Substances

SQSTM1 protein, human
Sequestosome-1 Protein