Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction Article Swipe
Robert Hastings
,
Carin P. de Villiers
,
Charlotte Hooper
,
Elizabeth Ormondroyd
,
Alistair T. Pagnamenta
,
Stefano Lise
,
Silvia Salatino
,
Samantha J.L. Knight
,
Jenny C. Taylor
,
Kate Thomson
,
Linda Arnold
,
S.D. Chatziefthimiou
,
Petr V. Konarev
,
Matthias Wilmanns
,
Elisabeth Ehler
,
Andrea Ghisleni
,
Mathias Gautel
,
Edward Blair
,
Hugh Watkins
,
Katja Gehmlich
·
YOU?
·
· 2016
· Open Access
·
· DOI: https://doi.org/10.1161/circgenetics.116.001431
YOU?
·
· 2016
· Open Access
·
· DOI: https://doi.org/10.1161/circgenetics.116.001431
Background— High throughput next-generation sequencing techniques have made whole genome sequencing accessible in clinical practice; however, the abundance of variation in the human genomes makes the identification of a disease-causing mutation on a background of benign rare variants challenging. Methods and Results— Here we combine whole genome sequencing with linkage analysis in a 3-generation family affected by cardiomyopathy with features of autosomal dominant left ventricular noncompaction cardiomyopathy. A missense mutation in the giant protein titin is the only plausible disease-causing variant that segregates with disease among the 7 surviving affected individuals, with interrogation of the entire genome excluding other potential causes. This A178D missense mutation, affecting a conserved residue in the second immunoglobulin-like domain of titin, was introduced in a bacterially expressed recombinant protein fragment and biophysically characterized in comparison to its wild-type counterpart. Multiple experiments, including size exclusion chromatography, small-angle x ray scattering, and circular dichroism spectroscopy suggest partial unfolding and domain destabilization in the presence of the mutation. Moreover, binding experiments in mammalian cells show that the mutation markedly impairs binding to the titin ligand telethonin. Conclusions— Here we present genetic and functional evidence implicating the novel A178D missense mutation in titin as the cause of a highly penetrant familial cardiomyopathy with features of left ventricular noncompaction. This expands the spectrum of titin’s roles in cardiomyopathies. It furthermore highlights that rare titin missense variants, currently often ignored or left uninterpreted, should be considered to be relevant for cardiomyopathies and can be identified by the approach presented here.
Related Topics
Concepts
Titin
Missense mutation
Genetics
Biology
Cardiomyopathy
Left ventricular noncompaction
Mutation
Whole genome sequencing
Genome
Obscurin
Gene
Medicine
Cell biology
Internal medicine
Heart failure
Myocyte
Sarcomere
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1161/circgenetics.116.001431
- https://www.ahajournals.org/doi/pdf/10.1161/CIRCGENETICS.116.001431
- OA Status
- diamond
- Cited By
- 79
- References
- 46
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2519784141
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W2519784141Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1161/circgenetics.116.001431Digital Object Identifier
- Title
-
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular NoncompactionWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2016Year of publication
- Publication date
-
2016-09-13Full publication date if available
- Authors
-
Robert Hastings, Carin P. de Villiers, Charlotte Hooper, Elizabeth Ormondroyd, Alistair T. Pagnamenta, Stefano Lise, Silvia Salatino, Samantha J.L. Knight, Jenny C. Taylor, Kate Thomson, Linda Arnold, S.D. Chatziefthimiou, Petr V. Konarev, Matthias Wilmanns, Elisabeth Ehler, Andrea Ghisleni, Mathias Gautel, Edward Blair, Hugh Watkins, Katja GehmlichList of authors in order
- Landing page
-
https://doi.org/10.1161/circgenetics.116.001431Publisher landing page
- PDF URL
-
https://www.ahajournals.org/doi/pdf/10.1161/CIRCGENETICS.116.001431Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
diamondOpen access status per OpenAlex
- OA URL
-
https://www.ahajournals.org/doi/pdf/10.1161/CIRCGENETICS.116.001431Direct OA link when available
- Concepts
-
Titin, Missense mutation, Genetics, Biology, Cardiomyopathy, Left ventricular noncompaction, Mutation, Whole genome sequencing, Genome, Obscurin, Gene, Medicine, Cell biology, Internal medicine, Heart failure, Myocyte, SarcomereTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
79Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 4, 2024: 4, 2023: 11, 2022: 5, 2021: 10Per-year citation counts (last 5 years)
- References (count)
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46Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| primary_location.source.host_organization_lineage_names | Lippincott Williams & Wilkins, Wolters Kluwer |
| primary_location.license | |
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| primary_location.raw_type | journal-article |
| primary_location.license_id | |
| primary_location.is_accepted | True |
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| publication_year | 2016 |
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| abstract_inverted_index.A | 67 |
| abstract_inverted_index.a | 28, 32, 52, 106, 119, 198 |
| abstract_inverted_index.x | 141 |
| abstract_inverted_index.It | 218 |
| abstract_inverted_index.as | 194 |
| abstract_inverted_index.be | 233, 236, 242 |
| abstract_inverted_index.by | 56, 244 |
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| abstract_inverted_index.is | 75 |
| abstract_inverted_index.of | 18, 27, 34, 60, 93, 114, 157, 197, 205, 213 |
| abstract_inverted_index.on | 31 |
| abstract_inverted_index.or | 229 |
| abstract_inverted_index.to | 130, 173, 235 |
| abstract_inverted_index.we | 43, 180 |
| abstract_inverted_index.and | 40, 125, 144, 151, 183, 240 |
| abstract_inverted_index.can | 241 |
| abstract_inverted_index.for | 238 |
| abstract_inverted_index.its | 131 |
| abstract_inverted_index.ray | 142 |
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| abstract_inverted_index.was | 116 |
| abstract_inverted_index.Here | 42, 179 |
| abstract_inverted_index.High | 1 |
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| abstract_inverted_index.have | 6 |
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| abstract_inverted_index.size | 137 |
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| abstract_inverted_index.cells | 165 |
| abstract_inverted_index.giant | 72 |
| abstract_inverted_index.here. | 248 |
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| abstract_inverted_index.novel | 188 |
| abstract_inverted_index.often | 227 |
| abstract_inverted_index.other | 98 |
| abstract_inverted_index.roles | 215 |
| abstract_inverted_index.titin | 74, 175, 193, 223 |
| abstract_inverted_index.whole | 8, 45 |
| abstract_inverted_index.benign | 35 |
| abstract_inverted_index.domain | 113, 152 |
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| abstract_inverted_index.genome | 9, 46, 96 |
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| abstract_inverted_index.titin, | 115 |
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| abstract_inverted_index.ignored | 228 |
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| abstract_inverted_index.residue | 108 |
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| abstract_inverted_index.however, | 15 |
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| abstract_inverted_index.mutation | 30, 69, 169, 191 |
| abstract_inverted_index.presence | 156 |
| abstract_inverted_index.relevant | 237 |
| abstract_inverted_index.spectrum | 212 |
| abstract_inverted_index.variants | 37 |
| abstract_inverted_index.Moreover, | 160 |
| abstract_inverted_index.abundance | 17 |
| abstract_inverted_index.affecting | 105 |
| abstract_inverted_index.autosomal | 61 |
| abstract_inverted_index.conserved | 107 |
| abstract_inverted_index.currently | 226 |
| abstract_inverted_index.dichroism | 146 |
| abstract_inverted_index.excluding | 97 |
| abstract_inverted_index.exclusion | 138 |
| abstract_inverted_index.expressed | 121 |
| abstract_inverted_index.including | 136 |
| abstract_inverted_index.mammalian | 164 |
| abstract_inverted_index.mutation, | 104 |
| abstract_inverted_index.mutation. | 159 |
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| abstract_inverted_index.surviving | 88 |
| abstract_inverted_index.titin’s | 214 |
| abstract_inverted_index.unfolding | 150 |
| abstract_inverted_index.variants, | 225 |
| abstract_inverted_index.variation | 19 |
| abstract_inverted_index.wild-type | 132 |
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| abstract_inverted_index.comparison | 129 |
| abstract_inverted_index.considered | 234 |
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| abstract_inverted_index.recombinant | 122 |
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| abstract_inverted_index.small-angle | 140 |
| abstract_inverted_index.telethonin. | 177 |
| abstract_inverted_index.ventricular | 64, 207 |
| abstract_inverted_index.3-generation | 53 |
| abstract_inverted_index.challenging. | 38 |
| abstract_inverted_index.counterpart. | 133 |
| abstract_inverted_index.experiments, | 135 |
| abstract_inverted_index.individuals, | 90 |
| abstract_inverted_index.spectroscopy | 147 |
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| abstract_inverted_index.biophysically | 126 |
| abstract_inverted_index.characterized | 127 |
| abstract_inverted_index.interrogation | 92 |
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| abstract_inverted_index.identification | 26 |
| abstract_inverted_index.noncompaction. | 208 |
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| abstract_inverted_index.destabilization | 153 |
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| abstract_inverted_index.cardiomyopathies. | 217 |
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| institutions_distinct_count | 20 |
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