Cap disease caused by heterozygous deletion of the β-tropomyosin gene TPM2

V. Lehtokari, C. Ceuterick-De Groote, P. De Jonghe, M. Marttila, Nigel Laing, K. Pelin, C. Wallgren-Pettersson

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76 Citations (Scopus)

Abstract

Cap myopathy or "cap disease" is a congenital myopathy characterised by cap-like structures at the periphery of muscle fibres, consisting of disarranged thin filaments with enlarged Z discs. Here we report a deletion in the beta-tropomyosin (TPM2) gene causing cap disease in a 36-year-old male patient with congenital muscle weakness, myopathic facies and respiratory insufficiency. The mutation identified in this patient is an in-frame deletion (c.415 - 417delGAG) of one codon in exon 4 of TPM2 removing a single glutamate residue (p.Glu139del) from the beta-tropomyosin protein. This is expected to disrupt the seven-amino acid repeat essential for making a coiled coil, and thus to impair tropomyosin-actin interaction. Missense mutations in TPM2 have previously been found to cause rare cases of nemaline myopathy and distal arthrogryposis. This mutation is one not previously described and the first genetic cause identified for cap disease. (c) 2007 Elsevier B.V. All rights reserved.
Original languageEnglish
Pages (from-to)433-442
JournalNeuromuscular Disorders
Volume17
Issue number6
DOIs
Publication statusPublished - 2007

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