A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features

J Appl Genet. 2017 May;58(2):199-203. doi: 10.1007/s13353-016-0368-z. Epub 2016 Oct 10.


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.

Keywords: TPM2 gene; Unspecified congenital myopathies; Whole exome sequencing.

Publication types

  • Case Reports

MeSH terms

  • Arthrogryposis / diagnosis
  • Arthrogryposis / genetics*
  • DNA Mutational Analysis
  • Exome
  • Female
  • Heterozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Muscular Diseases / congenital
  • Muscular Diseases / diagnosis
  • Muscular Diseases / genetics*
  • Mutation*
  • RNA Splice Sites / genetics*
  • Tropomyosin / genetics*


  • RNA Splice Sites
  • TPM2 protein, human
  • Tropomyosin