Titin copy number variations associated with dominant inherited phenotypes Article Swipe
Aurélien Perrin
,
Corinne Métay
,
Marco Savarese
,
Rabah Ben Yaou
,
German Demidov
,
Isabelle Nelson
,
Guilhem Solé
,
Yann Péréon
,
Enrico Bertini
,
Fabiana Fattori
,
Adele D’Amico
,
Federica Ricci
,
Mira Ginsberg
,
Andreea Seferian
,
Odile Boespflug‐Tanguy
,
Laurent Servais
,
Françoise Chapon
,
É. Lagrange
,
Karen Gaudon
,
Adrien Bloch
,
Robin Ghanem
,
Lucie Guyant‐Maréchal
,
Mridul Johari
,
Charles Van Goethem
,
Michel Fardeau
,
Raul Juntas Morales
,
Casie A. Genetti
,
M. Marttila
,
M. Kœnig
,
Alan H. Beggs
,
Bjarne Udd
,
Gisèle Bonne
,
Mireille Cossée
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1136/jmg-2023-109473
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1136/jmg-2023-109473
Background Titinopathies are caused by mutations in the titin gene ( TTN ). Titin is the largest known human protein; its gene has the longest coding phase with 364 exons. Titinopathies are very complex neuromuscular pathologies due to the variable age of onset of symptoms, the great diversity of pathological and muscular impairment patterns (cardiac, skeletal muscle or mixed) and both autosomal dominant and recessive modes of transmission. Until now, only few CNVs in TTN have been reported without clear genotype–phenotype associations. Methods Our study includes eight families with dominant titinopathies. We performed next-generation sequencing or comparative genomic hybridisation array analyses and found CNVs in the TTN gene. We characterised these CNVs by RNA sequencing (RNAseq) analyses in six patients’ muscles and performed genotype–phenotype inheritance association study by combining the clinical and biological data of these eight families. Results Seven deletion-type CNVs in the TTN gene were identified among these families. Genotype and RNAseq results showed that five deletions do not alter the reading frame and one is out-of-reading frame. The main phenotype identified was distal myopathy associated with contractures. The analysis of morphological, clinical and genetic data and imaging let us draw new genotype–phenotype associations of titinopathies. Conclusion Identifying TTN CNVs will further increase diagnostic sensitivity in these complex neuromuscular pathologies. Our cohort of patients enabled us to identify new deletion-type CNVs in the TTN gene, with unexpected autosomal dominant transmission. This is valuable in establishing new genotype–phenotype associations of titinopathies, mainly distal myopathy in most of the patients.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1136/jmg-2023-109473
- OA Status
- green
- Cited By
- 4
- References
- 40
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4367667221
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4367667221Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1136/jmg-2023-109473Digital Object Identifier
- Title
-
Titin copy number variations associated with dominant inherited phenotypesWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-11-07Full publication date if available
- Authors
-
Aurélien Perrin, Corinne Métay, Marco Savarese, Rabah Ben Yaou, German Demidov, Isabelle Nelson, Guilhem Solé, Yann Péréon, Enrico Bertini, Fabiana Fattori, Adele D’Amico, Federica Ricci, Mira Ginsberg, Andreea Seferian, Odile Boespflug‐Tanguy, Laurent Servais, Françoise Chapon, É. Lagrange, Karen Gaudon, Adrien Bloch, Robin Ghanem, Lucie Guyant‐Maréchal, Mridul Johari, Charles Van Goethem, Michel Fardeau, Raul Juntas Morales, Casie A. Genetti, M. Marttila, M. Kœnig, Alan H. Beggs, Bjarne Udd, Gisèle Bonne, Mireille CosséeList of authors in order
- Landing page
-
https://doi.org/10.1136/jmg-2023-109473Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
greenOpen access status per OpenAlex
- OA URL
-
https://orbi.uliege.be/handle/2268/325163Direct OA link when available
- Concepts
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Genetics, Biology, Titin, Copy-number variation, Genotype, Phenotype, Myopathy, Genotype-phenotype distinction, Exon, Gene, Genome, Sarcomere, Myocyte, EndocrinologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
4Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 3, 2024: 1Per-year citation counts (last 5 years)
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40Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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