ArticleHuman mutation2020
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
Article in Human mutation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed.
- Phenotype-specific muscle proteomic profiling in titinopathies.Acta neuropathologica communications · 2026Article
- Pyroxd1 is essential for murine viability with the homozygous N155S recurrent variant linked to myopathy, muscle hypotrophy and osteopenia.Acta neuropathologica communications · 2026Article
- Mending the Achilles heels of titin in cardiac and musculoskeletal disease.Biophysical reviews · 2026Review
- Over-Representation of TTN Truncating Variants in a Finnish Cohort of Patients With Axial Myopathy.European journal of neurology · 2026Article
- The evolving genetic landscape of neuromuscular fetal akinesias.Journal of neuromuscular diseases · 2025Review
- Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.Annals of neurology · 2025Article
- Congenital Titinopathies Linked to Mutations inInternational journal of molecular sciences · 2024Article
- Inferring disease course from differential exon usage in the wide titinopathy spectrum.Annals of clinical and translational neurology · 2024Article
- Identification of four TTN variants in three families with fetal akinesia deformation sequence.BMC medical genomics · 2024Article
- Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.Annals of clinical and translational neurology · 2024Article
- Titin copy number variations associated with dominant inherited phenotypes.Journal of medical genetics · 2024Article
- Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies.Scientific reports · 2024Review
- TTN novel splice variant in familial dilated cardiomyopathy and splice variants review: a case report.Frontiers in cardiovascular medicine · 2024Article
- Aberrant mRNA processing caused by splicing mutations in TTN-related neuromuscular disorders.Journal of human genetics · 2023Article
- Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.Human molecular genetics · 2023Article
- Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant.Acta neuropathologica communications · 2023Article
- Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.American journal of medical genetics. Part A · 2023Article
- Novel TTN Mutation Causing Severe Congenital Myopathy and Uncertain Association with Infantile Hydrocephalus.Case reports in genetics · 2023Article
- Bi-allelic loss-of-function variants inJournal of medical genetics · 2023Article
- Use of animal models to understand titin physiology and pathology.Journal of cellular and molecular medicine · 2022Review
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35 authors.
Funding
Abstract
We present eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice-site variant (NM_001267550.1:c.39974-11T>G), inherited in trans with a second pathogenic TTN variant. Muscle-derived RNA studies of three individuals confirmed mis-splicing induced by the c.39974-11T>G variant; in-frame exon 214 skipping or use of a cryptic 3' splice-site effecting a frameshift. Confounding interpretation of pathogenicity is the absence of exons 213-217 within the described skeletal muscle TTN N2A isoform. However, RNA-sequencing from 365 adult human gastrocnemius samples revealed that 56% specimens predominantly include exons 213-217 in TTN transcripts (inclusion rate ≥66%). Further, RNA-sequencing of five fetal muscle samples confirmed that 4/5 specimens predominantly include exons 213-217 (fifth sample inclusion rate 57%). Contractures improved significantly with age for four individuals, which may be linked to decreased expression of pathogenic fetal transcripts. Our study extends emerging evidence supporting a vital developmental role for TTN isoforms containing metatranscript-only exons.
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