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

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...

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Detalles Bibliográficos
Autores principales: Akkari, M., Kraoua, I., Klaa, H., Benrhouma, H., Ben Younes, T., Rouissi, A., Chaabouni, M., Ben Youssef‐Turki, I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767559/
https://www.ncbi.nlm.nih.gov/pubmed/33135846
http://dx.doi.org/10.1002/mgg3.1543
Descripción
Sumario: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.

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