Novel dominant distal titinopathy phenotype associated with copy number variation
Abstract 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...
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Wiley
2021
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oai:doaj.org-article:82ea21e674cb43eba36e02589a86a40a2021-11-19T13:55:31ZNovel dominant distal titinopathy phenotype associated with copy number variation2328-950310.1002/acn3.51434https://doaj.org/article/82ea21e674cb43eba36e02589a86a40a2021-09-01T00:00:00Zhttps://doi.org/10.1002/acn3.51434https://doaj.org/toc/2328-9503Abstract 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.Aurélien PerrinRaul Juntas MoralesFrançoise ChaponCorinne ThèzeDelphine LacourtHenri PégeotEmmanuelle Uro‐CosteDiane GiovanniniNicolas LeboucqMartial MallaretEmmeline LagrangeValérie RigauKaren GaudonPascale RichardMichel KoenigCorinne MétayMireille CosséeWileyarticleNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENAnnals of Clinical and Translational Neurology, Vol 8, Iss 9, Pp 1906-1912 (2021) |
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DOAJ |
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Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 |
| spellingShingle |
Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 Aurélien Perrin Raul Juntas Morales Françoise Chapon Corinne Thèze Delphine Lacourt Henri Pégeot Emmanuelle Uro‐Coste Diane Giovannini Nicolas Leboucq Martial Mallaret Emmeline Lagrange Valérie Rigau Karen Gaudon Pascale Richard Michel Koenig Corinne Métay Mireille Cossée Novel dominant distal titinopathy phenotype associated with copy number variation |
| description |
Abstract 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 |
article |
| author |
Aurélien Perrin Raul Juntas Morales Françoise Chapon Corinne Thèze Delphine Lacourt Henri Pégeot Emmanuelle Uro‐Coste Diane Giovannini Nicolas Leboucq Martial Mallaret Emmeline Lagrange Valérie Rigau Karen Gaudon Pascale Richard Michel Koenig Corinne Métay Mireille Cossée |
| author_facet |
Aurélien Perrin Raul Juntas Morales Françoise Chapon Corinne Thèze Delphine Lacourt Henri Pégeot Emmanuelle Uro‐Coste Diane Giovannini Nicolas Leboucq Martial Mallaret Emmeline Lagrange Valérie Rigau Karen Gaudon Pascale Richard Michel Koenig Corinne Métay Mireille Cossée |
| author_sort |
Aurélien Perrin |
| title |
Novel dominant distal titinopathy phenotype associated with copy number variation |
| title_short |
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_sort |
novel dominant distal titinopathy phenotype associated with copy number variation |
| publisher |
Wiley |
| publishDate |
2021 |
| url |
https://doaj.org/article/82ea21e674cb43eba36e02589a86a40a |
| work_keys_str_mv |
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