A Case of a Patient with Calpainopathy Carrying Compound Heterozygous Mutations of a <i>de novo</i> Pathogenic Variant of c.1333G>A and a Novel Variant of c.1331C>T in <i>CAPN3</i>

  • Komaki Shogo
    Department of Neurology, The University of Tokyo, Japan
  • Kubota Akatsuki
    Department of Neurology, The University of Tokyo, Japan
  • Katsuse Kazuto
    Department of Neurology, The University of Tokyo, Japan Department of Behavioral Neurology and Cognitive Neuroscience, Tohoku University School of Medicine, Japan
  • Kitamura Asuka
    Department of Neurology, The University of Tokyo, Japan
  • Maeda Meiko
    Department of Neurology, The University of Tokyo, Japan
  • Matsukawa Takashi
    Department of Neurology, The University of Tokyo, Japan
  • Eura Nobuyuki
    Department of Neuromuscular Research, National Center of Neurology and Psychiatry, Japan
  • Saito Yoshihiko
    Department of Neuromuscular Research, National Center of Neurology and Psychiatry, Japan
  • Nishino Ichizo
    Department of Neuromuscular Research, National Center of Neurology and Psychiatry, Japan
  • Toda Tatsushi
    Department of Neurology, The University of Tokyo, Japan

抄録

<p>Calpainopathy is primarily an autosomal recessive inherited myopathy; however, dominantly inherited cases with a pathogenic variant of c.1333G>A have been reported. A 13-year-old Japanese girl presented with toe walking and elevated serum creatine kinase levels. Genetic panel testing revealed compound heterozygosity for c.1333G>A and a novel variant of c.1331C>T in CAPN3, leading to a diagnosis of calpainopathy. A genetic analysis of her parents revealed the possibility that c.1333G>A was de novo. In this patient, the onset age was earlier than that of the reported autosomal dominant cases, suggesting the influence of the novel variant in the contralateral allele. </p>

収録刊行物

  • Internal Medicine

    Internal Medicine advpub (0), 2024

    一般社団法人 日本内科学会

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