First report of novel mutation (c.790del) on SQSTM1 gene on a family with childhood onset of progressive cerebellar ataxia with vertical gaze palsy

SQSTM1 gene encodes a protein called p62 that acts as an autophagy receptor in the degradation of protein molecules. A homozygous deletion variant that changes the frame shift in the SQSTM1 gene named c.790 Del A .T was detected in case childhood onset and progressive neurodegeneration with ataxia,...

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Autores principales: Jalali, Hossein, Khoshaeen, Atefeh, Mahdavi, Mohammad Reza, Mahdavi, Mahan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9361805/
https://www.ncbi.nlm.nih.gov/pubmed/35957775
http://dx.doi.org/10.1002/ccr3.6203
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author Jalali, Hossein
Khoshaeen, Atefeh
Mahdavi, Mohammad Reza
Mahdavi, Mahan
author_facet Jalali, Hossein
Khoshaeen, Atefeh
Mahdavi, Mohammad Reza
Mahdavi, Mahan
author_sort Jalali, Hossein
collection PubMed
description SQSTM1 gene encodes a protein called p62 that acts as an autophagy receptor in the degradation of protein molecules. A homozygous deletion variant that changes the frame shift in the SQSTM1 gene named c.790 Del A .T was detected in case childhood onset and progressive neurodegeneration with ataxia, and gaze palsy.
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spelling pubmed-93618052022-08-10 First report of novel mutation (c.790del) on SQSTM1 gene on a family with childhood onset of progressive cerebellar ataxia with vertical gaze palsy Jalali, Hossein Khoshaeen, Atefeh Mahdavi, Mohammad Reza Mahdavi, Mahan Clin Case Rep Case Report SQSTM1 gene encodes a protein called p62 that acts as an autophagy receptor in the degradation of protein molecules. A homozygous deletion variant that changes the frame shift in the SQSTM1 gene named c.790 Del A .T was detected in case childhood onset and progressive neurodegeneration with ataxia, and gaze palsy. John Wiley and Sons Inc. 2022-08-09 /pmc/articles/PMC9361805/ /pubmed/35957775 http://dx.doi.org/10.1002/ccr3.6203 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Jalali, Hossein
Khoshaeen, Atefeh
Mahdavi, Mohammad Reza
Mahdavi, Mahan
First report of novel mutation (c.790del) on SQSTM1 gene on a family with childhood onset of progressive cerebellar ataxia with vertical gaze palsy
title First report of novel mutation (c.790del) on SQSTM1 gene on a family with childhood onset of progressive cerebellar ataxia with vertical gaze palsy
title_full First report of novel mutation (c.790del) on SQSTM1 gene on a family with childhood onset of progressive cerebellar ataxia with vertical gaze palsy
title_fullStr First report of novel mutation (c.790del) on SQSTM1 gene on a family with childhood onset of progressive cerebellar ataxia with vertical gaze palsy
title_full_unstemmed First report of novel mutation (c.790del) on SQSTM1 gene on a family with childhood onset of progressive cerebellar ataxia with vertical gaze palsy
title_short First report of novel mutation (c.790del) on SQSTM1 gene on a family with childhood onset of progressive cerebellar ataxia with vertical gaze palsy
title_sort first report of novel mutation (c.790del) on sqstm1 gene on a family with childhood onset of progressive cerebellar ataxia with vertical gaze palsy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9361805/
https://www.ncbi.nlm.nih.gov/pubmed/35957775
http://dx.doi.org/10.1002/ccr3.6203
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