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Novel dominant distal titinopathy phenotype associated with copy number variation
The aim of this study was to analyze patients from two distinct families with a novel distal titinopathy phenotype associated with exactly the same CNV in the TTN gene. We used an integrated strategy combining deep phenotyping and complete molecular analyses in patients. The CNV is the most proximal...
Autores principales: | , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8419403/ https://www.ncbi.nlm.nih.gov/pubmed/34312993 http://dx.doi.org/10.1002/acn3.51434 |
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author | Perrin, Aurélien Juntas Morales, Raul Chapon, Françoise Thèze, Corinne Lacourt, Delphine Pégeot, Henri Uro‐Coste, Emmanuelle Giovannini, Diane Leboucq, Nicolas Mallaret, Martial Lagrange, Emmeline Rigau, Valérie Gaudon, Karen Richard, Pascale Koenig, Michel Métay, Corinne Cossée, Mireille |
author_facet | Perrin, Aurélien Juntas Morales, Raul Chapon, Françoise Thèze, Corinne Lacourt, Delphine Pégeot, Henri Uro‐Coste, Emmanuelle Giovannini, Diane Leboucq, Nicolas Mallaret, Martial Lagrange, Emmeline Rigau, Valérie Gaudon, Karen Richard, Pascale Koenig, Michel Métay, Corinne Cossée, Mireille |
author_sort | Perrin, Aurélien |
collection | PubMed |
description | The aim of this study was to analyze patients from two distinct families with a novel distal titinopathy phenotype associated with exactly the same CNV in the TTN gene. We used an integrated strategy combining deep phenotyping and complete molecular analyses in patients. The CNV is the most proximal out‐of‐frame TTN variant reported and leads to aberrant splicing transcripts leading to a frameshift. In this case, the dominant effect would be due to dominant‐negative and/or haploinsufficiency. Few CNV in TTN have been reported to date. Our data represent a novel phenotype–genotype association and provides hypotheses for its dominant effects. |
format | Online Article Text |
id | pubmed-8419403 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-84194032021-09-08 Novel dominant distal titinopathy phenotype associated with copy number variation Perrin, Aurélien Juntas Morales, Raul Chapon, Françoise Thèze, Corinne Lacourt, Delphine Pégeot, Henri Uro‐Coste, Emmanuelle Giovannini, Diane Leboucq, Nicolas Mallaret, Martial Lagrange, Emmeline Rigau, Valérie Gaudon, Karen Richard, Pascale Koenig, Michel Métay, Corinne Cossée, Mireille Ann Clin Transl Neurol Brief Communication The aim of this study was to analyze patients from two distinct families with a novel distal titinopathy phenotype associated with exactly the same CNV in the TTN gene. We used an integrated strategy combining deep phenotyping and complete molecular analyses in patients. The CNV is the most proximal out‐of‐frame TTN variant reported and leads to aberrant splicing transcripts leading to a frameshift. In this case, the dominant effect would be due to dominant‐negative and/or haploinsufficiency. Few CNV in TTN have been reported to date. Our data represent a novel phenotype–genotype association and provides hypotheses for its dominant effects. John Wiley and Sons Inc. 2021-07-27 /pmc/articles/PMC8419403/ /pubmed/34312993 http://dx.doi.org/10.1002/acn3.51434 Text en © 2021 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Brief Communication Perrin, Aurélien Juntas Morales, Raul Chapon, Françoise Thèze, Corinne Lacourt, Delphine Pégeot, Henri Uro‐Coste, Emmanuelle Giovannini, Diane Leboucq, Nicolas Mallaret, Martial Lagrange, Emmeline Rigau, Valérie Gaudon, Karen Richard, Pascale Koenig, Michel Métay, Corinne Cossée, Mireille Novel dominant distal titinopathy phenotype associated with copy number variation |
title | Novel dominant distal titinopathy phenotype associated with copy number variation |
title_full | Novel dominant distal titinopathy phenotype associated with copy number variation |
title_fullStr | Novel dominant distal titinopathy phenotype associated with copy number variation |
title_full_unstemmed | Novel dominant distal titinopathy phenotype associated with copy number variation |
title_short | Novel dominant distal titinopathy phenotype associated with copy number variation |
title_sort | novel dominant distal titinopathy phenotype associated with copy number variation |
topic | Brief Communication |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8419403/ https://www.ncbi.nlm.nih.gov/pubmed/34312993 http://dx.doi.org/10.1002/acn3.51434 |
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