Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy-Reference-Cited by-同舟云学术

Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

Published:2019-12-03 Issue:2 Volume:41 Page:403-411
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Bryen Samantha J.¹²^ORCID,Ewans Lisa J.³⁴,Pinner Jason³⁵,MacLennan Suzanna C.⁶⁷,Donkervoort Sandra⁸,Castro Diana⁹,Töpf Ana¹⁰,O'Grady Gina¹²,Cummings Beryl¹¹¹²¹³,Chao Katherine R.¹¹¹²¹³,Weisburd Ben¹¹¹²¹³,Francioli Laurent¹¹¹²¹³,Faiz Fathimath¹⁴,Bournazos Adam M.¹²^ORCID,Hu Ying⁸,Grosmann Carla¹⁵,Malicki Denise M.¹⁶,Doyle Helen¹⁷,Witting Nanna¹⁸,Vissing John¹⁸,Claeys Kristl G.¹⁹²⁰,Urankar Kathryn²¹,Beleza‐Meireles Ana²²,Baptista Julia²³²⁴,Ellard Sian²³²⁴,Savarese Marco²⁵,Johari Mridul²⁵,Vihola Anna²⁵,Udd Bjarne²⁵²⁶,Majumdar Anirban²⁷,Straub Volker¹⁰,Bönnemann Carsten G.⁸,MacArthur Daniel G.¹¹¹²¹³,Davis Mark R.¹⁴,Cooper Sandra T.¹²²⁸^ORCID

Affiliation:

1. Kids Neuroscience Centre, Kids ResearchChildren's Hospital at WestmeadWestmead New South Wales Australia

2. Discipline of Child and Adolescent HealthThe University of Sydney Children's Hospital Westmead Clinical SchoolWestmead New South Wales Australia

3. Department of Medical GenomicsRoyal Prince Alfred HospitalCamperdown New South Wales Australia

4. Central Clinical SchoolUniversity of SydneySydney New South Wales Australia

5. Centre for Clinical GeneticsSydney Children's HospitalRandwick NSW 2031 Australia

6. Neurology DepartmentWomen's and Children's HospitalNorth Adelaide South Australia Australia

7. School of Paediatrics and Reproductive HealthUniversity of AdelaideAdelaide South Australia Australia

8. Neurogenetics Branch, National Institute of Neurological Disorders and StrokeNational Institutes of HealthBethesda Maryland

9. Department of PediatricsUniversity of Texas Southwestern Medical CenterDallas Texas

10. John Walton Muscular Dystrophy Research Centre, Institute of Genetic MedicineNewcastle UniversityNewcastle upon Tyne United Kingdom

11. Analytic and Translational Genetics UnitMassachusetts General HospitalBoston Massachusetts

12. Center for Mendelian GenomicsBroad Institute of Massachusetts Institute of Technology and HarvardCambridge Massachusetts

13. Program in Medical and Population GeneticsBroad Institute of Massachusetts Institute of Technology and Harvard Cambridge Massachusetts

14. Department of Diagnostic GenomicsPathWest Laboratory MedicineNedlands WA Australia

15. Department of NeurologyRady Children's Hospital University of California San DiegoSan Diego California

16. Department of PathologyRady Children's Hospital University of California San DiegoSan Diego California

17. Department of HistopathologyThe Children's Hospital at Westmead, Sydney Children's Hospital NetworkWestmead NSW Australia

18. Copenhagen Neuromuscular Center, Department of Neurology, RigshospitaletUniversity of CopenhagenCopenhagen Denmark

19. Department of NeurologyUniversity Hospitals LeuvenLeuven Belgium

20. Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, Experimental NeurologyKU Leuven‐University of LeuvenLeuven Belgium

21. Department of Neuropathology, Southmead HospitalUniversity Hospitals Bristol NHS Foundation TrustBristol United Kingdom

22. Clinical Genetics, Bristol Royal Hospital For ChildrenUniversity Hospitals Bristol NHS Foundation TrustBristol United Kingdom

23. Molecular Genetics DepartmentRoyal Devon and Exeter NHS Foundation TrustExeter United Kingdom

24. Institute of Biomedical and Clinical ScienceUniversity of Exeter Medical School University of ExeterExeter United Kingdom

25. Folkhälsan Research CenterMedicum, University of HelsinkiHaartmaninkatu 8 Helsinki 00290 Finland

26. Tampere Neuromuscular CenterTampere University HospitalTeiskontie 35 Tampere 33520 Finland

27. Paediatric Neurology, Bristol Royal Hospital For ChildrenUniversity Hospitals Bristol NHS Foundation TrustBristol United Kingdom

28. Functional NeuromicsThe Children's Medical Research InstituteWestmead New South Wales Australia

Funder

National Human Genome Research Institute

National Health and Medical Research Council

National Eye Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23938

Reference13 articles.

1. The Complete Gene Sequence of Titin, Expression of an Unusual ≈700-kDa Titin Isoform, and Its Interaction With Obscurin Identify a Novel Z-Line to I-Band Linking System

2. A Rising Titan:TTNReview and Mutation Update

3. A homozygous TTN gene variant associated with lethal congenital contracture syndrome

4. Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement

5. Series of Exon-Skipping Events in the Elastic Spring Region of Titin as the Structural Basis for Myofibrillar Elastic Diversity

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