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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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
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author Akkari, M.
Kraoua, I.
Klaa, H.
Benrhouma, H.
Ben Younes, T.
Rouissi, A.
Chaabouni, M.
Ben Youssef‐Turki, I.
author_facet Akkari, M.
Kraoua, I.
Klaa, H.
Benrhouma, H.
Ben Younes, T.
Rouissi, A.
Chaabouni, M.
Ben Youssef‐Turki, I.
author_sort Akkari, M.
collection PubMed
description 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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spelling pubmed-77675592020-12-28 SQSTM1 mutation: Description of the first Tunisian case and literature review Akkari, M. Kraoua, I. Klaa, H. Benrhouma, H. Ben Younes, T. Rouissi, A. Chaabouni, M. Ben Youssef‐Turki, I. Mol Genet Genomic Med Review Article 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. John Wiley and Sons Inc. 2020-11-02 /pmc/articles/PMC7767559/ /pubmed/33135846 http://dx.doi.org/10.1002/mgg3.1543 Text en © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review Article
Akkari, M.
Kraoua, I.
Klaa, H.
Benrhouma, H.
Ben Younes, T.
Rouissi, A.
Chaabouni, M.
Ben Youssef‐Turki, I.
SQSTM1 mutation: Description of the first Tunisian case and literature review
title SQSTM1 mutation: Description of the first Tunisian case and literature review
title_full SQSTM1 mutation: Description of the first Tunisian case and literature review
title_fullStr SQSTM1 mutation: Description of the first Tunisian case and literature review
title_full_unstemmed SQSTM1 mutation: Description of the first Tunisian case and literature review
title_short SQSTM1 mutation: Description of the first Tunisian case and literature review
title_sort sqstm1 mutation: description of the first tunisian case and literature review
topic Review Article
url 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
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