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Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy

Authors
  • Harada, Haruhito1
  • Hayashi, Takeharu2, 3
  • Nishi, Hirofumi4
  • Kusaba, Ken5
  • Koga, Yoshinori6
  • Koga, Yasutoshi7
  • Nonaka, Ikuya8
  • Kimura, Akinori2, 3
  • 1 Kurume University Medical Center, Department of Cardiology, Kurume, Japan , Kurume (Japan)
  • 2 Tokyo Medical and Dental University (TMDU), Department of Molecular Pathogenesis, Medical Research Institute, Tokyo, Japan , Tokyo (Japan)
  • 3 Tokyo Medical and Dental University (TMDU), Laboratory for Integrated Research Projects on Intractable Diseases, Medical Research Institute, Tokyo, Japan , Tokyo (Japan)
  • 4 Nishi Clinic, Omuta, Japan , Omuta (Japan)
  • 5 Kusaba Internal Medicine and Cardiovascular Clinic, Yame, Japan , Yame (Japan)
  • 6 Hagiwara Central Hospital, Kitakyushu, Japan , Kitakyushu (Japan)
  • 7 Kurume University School of Medicine, Department of Pediatrics and Child Health, Kurume, Japan , Kurume (Japan)
  • 8 National Center of Neurology and Psychiatry, Department of Child Neurology, Kodaira, Japan , Kodaira (Japan)
Type
Published Article
Journal
Journal of Human Genetics
Publisher
Springer Nature
Publication Date
Nov 22, 2017
Volume
63
Issue
2
Pages
249–254
Identifiers
DOI: 10.1038/s10038-017-0383-x
Source
Springer Nature
License
Yellow

Abstract

Hypertrophic cardiomyopathy is a heterogeneous disease caused by gene mutations. Most of the disease-causing mutations were found in the genes for sarcomeric proteins, but there are several cases carrying mutations in genes for extra-sarcomeric cytoskeletons. Desmin is a member of extra-sarcomeric cytoskeletons and plays an important role in muscle contraction. Mutations in the desmin gene cause various type of general myopathy and/or cardiomyopathy, known as desmin-related myopathies. We identified a novel desmin missense mutation, Thr219Pro, in the homozygous state in a patient, who first manifested with hypertrophic cardiomyopathy and later progressed to general myopathy. His parents were heterozygous for the mutation, but showed no clinical abnormality, suggesting the recessive inheritance of the mutation. We here report a severe phenotype of hypertrophic cardiomyopathy preceded the onset of general myopathy caused by a novel homozygous missense mutation in the 1B α-helix domain of desmin.

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