ArticleJournal of applied genetics2017
A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features.
Article in Journal of applied genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 20 citations in OpenAlex.
- Myotube Guidance: Shaping up the Musculoskeletal System.Journal of developmental biology · 2024Review
- Characterization of Alternative Splicing in High-Risk Wilms' Tumors.International journal of molecular sciences · 2024Article
- Bulk and single-cell alternative splicing analyses reveal roles of TRA2B in myogenic differentiation.Cell proliferation · 2024Article
- A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesis.JCI insight · 2022Article
- SARS-CoV-2 competes with host mRNAs for efficient translation by maintaining the mutations favorable for translation initiation.Journal of applied genetics · 2022Article
- Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families.BMC medical genetics · 2018Article
- [Clinical, pathological and genetic studies of two cases of childhood-onset nemaline myopathy].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Article
- A mutation of beta-tropomyosin gene in a Chinese family with distal arthrogryposis type I.International journal of clinical and experimental pathology · 2017Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To date, only two splice-site mutations within the TPM2 gene have been shown to be causative for congenital myopathies. While the majority of TPM2 gene mutations are causative for nemaline myopathy, cap disease or distal arthrogryposis, some mutations in this gene have been found to be associated with non-specific congenital myopathy. We report on a patient with such an unspecified congenital myopathy associated with distinctive facial dysmorphic features and distal arthrogryposis. Using the whole exome sequencing (WES) approach we were able to identify a novel heterozygous splice-site mutation within the TPM2 gene, showing the utility of WES in molecular diagnostics of congenital myopathies without recognizable morphological hallmarks.
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