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

Autor:	M. Akkari, I. Kraoua, H. Klaa, H. Benrhouma, T. Ben Younes, A. Rouissi, M. Chaabouni, I. Ben Youssef‐Turki
Jazyk:	angličtina
Rok vydání:	2020
Předmět:	cognitive decline degenerative ataxia dystonia ophthalmoparesis SQSTM1 mutation Genetics QH426-470
Zdroj:	Molecular Genetics & Genomic Medicine, Vol 8, Iss 12, Pp n/a-n/a (2020)
Druh dokumentu:	article
ISSN:	2324-9269
DOI:	10.1002/mgg3.1543
Popis:	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.
Databáze:	Directory of Open Access Journals
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