Congenital Titinopathy: Comprehensive characterization and pathogenic insights Article Swipe
Emily C. Oates
,
Kristi Jones
,
Sandra Donkervoort
,
Amanda Charlton
,
Susan Brammah
,
John E. Smith
,
James S. Ware
,
Kyle S. Yau
,
Lindsay C. Swanson
,
Nicola Whiffin
,
Anthony Peduto
,
Adam Bournazos
,
Leigh B. Waddell
,
Michelle A. Farrar
,
Hugo Sampaio
,
Hooi Ling Teoh
,
Phillipa J. Lamont
,
David Mowat
,
Robin B. Fitzsimons
,
Alastair Corbett
,
Monique M. Ryan
,
Gina O’Grady
,
Sarah A. Sandaradura
,
Roula Ghaoui
,
Himanshu Joshi
,
Jamie L. Marshall
,
Melinda Nolan
,
Simranpreet Kaur
,
Jaya Punetha
,
Ana Töpf
,
Elizabeth Harris
,
Madhura Bakshi
,
Casie A. Genetti
,
M. Marttila
,
Ulla Werlauff
,
Nathalie Streichenberger
,
Alan Pestronk
,
Ingrid Mazanti
,
Jason Pinner
,
Carole Vuillerot
,
Carla Grosmann
,
Ana Camacho
,
Payam Mohassel
,
M. Leach
,
A. Reghan Foley
,
Diana Bharucha‐Goebel
,
James J. Collins
,
Anne M. Connolly
,
Heather R. Gilbreath
,
Susan T. Iannaccone
,
Diana Castro
,
Beryl B. Cummings
,
Richard Webster
,
Leïla Lazaro
,
John Vissing
,
Sandra Coppens
,
Nicolas Deconinck
,
Ho‐Ming Luk
,
Neil H. Thomas
,
Nicola Foulds
,
Marjorie Illingworth
,
Sian Ellard
,
Catriona McLean
,
Rahul Phadke
,
Gianina Ravenscroft
,
Nanna Witting
,
Peter Hackman
,
Isabelle Richard
,
Sandra T. Cooper
,
Erik‐Jan Kamsteeg
,
Eric P. Hoffman
,
Kate Bushby
,
Volker Straub
,
Bjarne Udd
,
Ana Ferreiro
,
Kathryn N. North
,
Nigel F. Clarke
,
Monkol Lek
,
Alan H. Beggs
,
C. Bönnemann
,
Daniel G. MacArthur
,
Henk Granzier
,
Mark R. Davis
,
Nigel G. Laing
·
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.1002/ana.25241
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.1002/ana.25241
Objective Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. Methods Using massively parallel sequencing we identified 30 patients from 27 families with 2 pathogenic nonsense, frameshift and/or splice site TTN mutations in trans . We then undertook a detailed analysis of the clinical, histopathological and imaging features of these patients. Results All patients had prenatal or early onset hypotonia and/or congenital contractures. None had ophthalmoplegia. Scoliosis and respiratory insufficiency typically developed early and progressed rapidly, whereas limb weakness was often slowly progressive, and usually did not prevent independent walking. Cardiac involvement was present in 46% of patients. Relatives of 2 patients had dilated cardiomyopathy. Creatine kinase levels were normal to moderately elevated. Increased fiber size variation, internalized nuclei and cores were common histopathological abnormalities. Cap‐like regions, whorled or ring fibers, and mitochondrial accumulations were also observed. Muscle magnetic resonance imaging showed gluteal, hamstring and calf muscle involvement. Western blot analysis showed a near‐normal sized titin protein in all samples. The presence of 2 mutations predicted to impact both N2BA and N2B cardiac isoforms appeared to be associated with greatest risk of cardiac involvement. One‐third of patients had 1 mutation predicted to impact exons present in fetal skeletal muscle, but not included within the mature skeletal muscle isoform transcript. This strongly suggests developmental isoforms are involved in the pathogenesis of this congenital/early onset disorder. Interpretation This detailed clinical reference dataset will greatly facilitate diagnostic confirmation and management of patients, and has provided important insights into disease pathogenesis. Ann Neurol 2018;83:1105–1124
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- Landing Page
- https://doi.org/10.1002/ana.25241
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ana.25241
- OA Status
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- OpenAlex ID
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- OpenAlex ID
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https://openalex.org/W2901349131Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1002/ana.25241Digital Object Identifier
- Title
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Congenital Titinopathy: Comprehensive characterization and pathogenic insightsWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2018Year of publication
- Publication date
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2018-04-25Full publication date if available
- Authors
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Emily C. Oates, Kristi Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E. Smith, James S. Ware, Kyle S. Yau, Lindsay C. Swanson, Nicola Whiffin, Anthony Peduto, Adam Bournazos, Leigh B. Waddell, Michelle A. Farrar, Hugo Sampaio, Hooi Ling Teoh, Phillipa J. Lamont, David Mowat, Robin B. Fitzsimons, Alastair Corbett, Monique M. Ryan, Gina O’Grady, Sarah A. Sandaradura, Roula Ghaoui, Himanshu Joshi, Jamie L. Marshall, Melinda Nolan, Simranpreet Kaur, Jaya Punetha, Ana Töpf, Elizabeth Harris, Madhura Bakshi, Casie A. Genetti, M. Marttila, Ulla Werlauff, Nathalie Streichenberger, Alan Pestronk, Ingrid Mazanti, Jason Pinner, Carole Vuillerot, Carla Grosmann, Ana Camacho, Payam Mohassel, M. Leach, A. Reghan Foley, Diana Bharucha‐Goebel, James J. Collins, Anne M. Connolly, Heather R. Gilbreath, Susan T. Iannaccone, Diana Castro, Beryl B. Cummings, Richard Webster, Leïla Lazaro, John Vissing, Sandra Coppens, Nicolas Deconinck, Ho‐Ming Luk, Neil H. Thomas, Nicola Foulds, Marjorie Illingworth, Sian Ellard, Catriona McLean, Rahul Phadke, Gianina Ravenscroft, Nanna Witting, Peter Hackman, Isabelle Richard, Sandra T. Cooper, Erik‐Jan Kamsteeg, Eric P. Hoffman, Kate Bushby, Volker Straub, Bjarne Udd, Ana Ferreiro, Kathryn N. North, Nigel F. Clarke, Monkol Lek, Alan H. Beggs, C. Bönnemann, Daniel G. MacArthur, Henk Granzier, Mark R. Davis, Nigel G. LaingList of authors in order
- Landing page
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ana.25241Direct link to full text PDF
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hybridOpen access status per OpenAlex
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ana.25241Direct OA link when available
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Characterization (materials science), Medicine, Nanotechnology, Materials scienceTop concepts (fields/topics) attached by OpenAlex
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148Total citation count in OpenAlex
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.greatest | 186 |
| abstract_inverted_index.included | 208 |
| abstract_inverted_index.insights | 250 |
| abstract_inverted_index.involved | 222 |
| abstract_inverted_index.isoforms | 180, 220 |
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| abstract_inverted_index.mutation | 196 |
| abstract_inverted_index.parallel | 20 |
| abstract_inverted_index.patients | 25, 60, 108, 193 |
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| abstract_inverted_index.presence | 168 |
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| abstract_inverted_index.rapidly, | 82 |
| abstract_inverted_index.regions, | 133 |
| abstract_inverted_index.samples. | 166 |
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| abstract_inverted_index.walking. | 96 |
| abstract_inverted_index.weakness | 85 |
| abstract_inverted_index.Increased | 120 |
| abstract_inverted_index.Objective | 0 |
| abstract_inverted_index.Relatives | 105 |
| abstract_inverted_index.Scoliosis | 73 |
| abstract_inverted_index.clinical, | 50 |
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| abstract_inverted_index.diagnosis | 9 |
| abstract_inverted_index.disorder. | 16, 230 |
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| abstract_inverted_index.patients, | 245 |
| abstract_inverted_index.patients. | 57, 104 |
| abstract_inverted_index.predicted | 172, 197 |
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| abstract_inverted_index.One‐third | 191 |
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| abstract_inverted_index.involvement | 98 |
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| abstract_inverted_index.Comprehensive | 1 |
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| abstract_inverted_index.contractures. | 69 |
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| abstract_inverted_index.mitochondrial | 139 |
| abstract_inverted_index.near‐normal | 160 |
| abstract_inverted_index.pathogenesis. | 253 |
| abstract_inverted_index.Interpretation | 231 |
| abstract_inverted_index.abnormalities. | 131 |
| abstract_inverted_index.cardiomyopathy. | 111 |
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| abstract_inverted_index.ophthalmoplegia. | 72 |
| abstract_inverted_index.histopathological | 51, 130 |
| abstract_inverted_index.2018;83:1105–1124 | 256 |
| cited_by_percentile_year.max | 100 |
| cited_by_percentile_year.min | 98 |
| corresponding_author_ids | https://openalex.org/A5011616116 |
| countries_distinct_count | 10 |
| institutions_distinct_count | 84 |
| corresponding_institution_ids | https://openalex.org/I129604602, https://openalex.org/I2800129641, https://openalex.org/I2802384191, https://openalex.org/I31746571, https://openalex.org/I45129253 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.7200000286102295 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.99081762 |
| citation_normalized_percentile.is_in_top_1_percent | True |
| citation_normalized_percentile.is_in_top_10_percent | True |