title: A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features.
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.
authors.affiliation: Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, A. Pawi ńskiego 5, 02-106, Warsaw, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Mroczek
authors.affiliation: Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, A. Pawi ńskiego 5, 02-106, Warsaw, Poland. dagkab@imdik.pan.pl.
authors.forename: Dagmara
authors.identifier: http://orcid.org/0000-0001-7572-3367
authors.initials: D
authors.lastname: Kabzińska
authors.affiliation: Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland.
authors.forename: Krystyna H
authors.initials: KH
authors.lastname: Chrzanowska
authors.affiliation: Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Maciej
authors.initials: M
authors.lastname: Pronicki
authors.affiliation: Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, A. Pawi ńskiego 5, 02-106, Warsaw, Poland.
authors.forename: Andrzej
authors.initials: A
authors.lastname: Kochański
mesh_terms: D001176:Arthrogryposis / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D059472:Exome; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009135:Muscular Diseases / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D022821:RNA Splice Sites / Q000235:genetics*; D014335:Tropomyosin / Q000235:genetics*
chemical_list: D022821:RNA Splice Sites; C518659:TPM2 protein, human; D014335:Tropomyosin
keywords: TPM2 gene; Unspecified congenital myopathies; Whole exome sequencing