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Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene

Argyrophilic grain disease (AGD) is a progressive neurodegenerative disease of the human brain that has never been associated to a particular gene locus. In the present study, we report the results of a CNV investigation in 29 individuals whose anatomopathologic investigation of the brain showed AGD...

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Autores principales: Villela, Darine, Kimura, Lilian, Schlesinger, David, Gonçalves, Amanda, Pearson, Peter L., Suemoto, Claudia K., Pasqualucci, Carlos, Krepischi, Ana Cristina, Grinberg, Lea T., Rosenberg, Carla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3873179/
https://www.ncbi.nlm.nih.gov/pubmed/24385851
http://dx.doi.org/10.1590/S1415-47572013000400006
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author Villela, Darine
Kimura, Lilian
Schlesinger, David
Gonçalves, Amanda
Pearson, Peter L.
Suemoto, Claudia K.
Pasqualucci, Carlos
Krepischi, Ana Cristina
Grinberg, Lea T.
Rosenberg, Carla
author_facet Villela, Darine
Kimura, Lilian
Schlesinger, David
Gonçalves, Amanda
Pearson, Peter L.
Suemoto, Claudia K.
Pasqualucci, Carlos
Krepischi, Ana Cristina
Grinberg, Lea T.
Rosenberg, Carla
author_sort Villela, Darine
collection PubMed
description Argyrophilic grain disease (AGD) is a progressive neurodegenerative disease of the human brain that has never been associated to a particular gene locus. In the present study, we report the results of a CNV investigation in 29 individuals whose anatomopathologic investigation of the brain showed AGD. Rare CNVs were identified in six patients (21%), in particular a 40 kb deletion at 17p13.2 encompassing the CTNS gene. Homozygote mutations in CTNS are known to cause cystinosis, a disorder characterized by the intralysosomal accumulation of cystine in all tissues. We present the first CNV results in individuals presenting AGD and a possible candidate gene implicated in the disorder.
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spelling pubmed-38731792014-01-02 Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene Villela, Darine Kimura, Lilian Schlesinger, David Gonçalves, Amanda Pearson, Peter L. Suemoto, Claudia K. Pasqualucci, Carlos Krepischi, Ana Cristina Grinberg, Lea T. Rosenberg, Carla Genet Mol Biol Human and Medical Genetics Argyrophilic grain disease (AGD) is a progressive neurodegenerative disease of the human brain that has never been associated to a particular gene locus. In the present study, we report the results of a CNV investigation in 29 individuals whose anatomopathologic investigation of the brain showed AGD. Rare CNVs were identified in six patients (21%), in particular a 40 kb deletion at 17p13.2 encompassing the CTNS gene. Homozygote mutations in CTNS are known to cause cystinosis, a disorder characterized by the intralysosomal accumulation of cystine in all tissues. We present the first CNV results in individuals presenting AGD and a possible candidate gene implicated in the disorder. Sociedade Brasileira de Genética 2013-12 2013-11-08 /pmc/articles/PMC3873179/ /pubmed/24385851 http://dx.doi.org/10.1590/S1415-47572013000400006 Text en Copyright © 2013, Sociedade Brasileira de Genética. License information: This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Human and Medical Genetics
Villela, Darine
Kimura, Lilian
Schlesinger, David
Gonçalves, Amanda
Pearson, Peter L.
Suemoto, Claudia K.
Pasqualucci, Carlos
Krepischi, Ana Cristina
Grinberg, Lea T.
Rosenberg, Carla
Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene
title Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene
title_full Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene
title_fullStr Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene
title_full_unstemmed Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene
title_short Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene
title_sort germline dna copy number variation in individuals with argyrophilic grain disease reveals ctns as a plausible candidate gene
topic Human and Medical Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3873179/
https://www.ncbi.nlm.nih.gov/pubmed/24385851
http://dx.doi.org/10.1590/S1415-47572013000400006
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