Characteristic Clinical Features of Werner Syndrome with a Novel Compound Heterozygous WRN Mutation c.1720+1G>A Plus c.3139-1G>C

DOI IR Web Site PubMed 1 Citations 6 References Open Access
  • Matsumoto Namiko
    Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Japan Department of Neurology, Okayama Citizen's Hospital, Japan
  • Ohta Yasuyuki
    Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Japan
  • Deguchi Kentaro
    Department of Neurology, Okayama Citizen's Hospital, Japan
  • Kishida Masayuki
    Department of General Internal Medicine, Okayama Citizen's Hospital, Japan
  • Sato Kota
    Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Japan
  • Shang Jingwei
    Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Japan
  • Takemoto Mami
    Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Japan
  • Hishikawa Nozomi
    Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Japan
  • Yamashita Toru
    Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Japan
  • Watanabe Aki
    Department of Clinical Cell Biology and Medicine, Graduate School of Medicine, Chiba University, Japan
  • Yokote Koutaro
    Department of Clinical Cell Biology and Medicine, Graduate School of Medicine, Chiba University, Japan
  • Takemoto Minoru
    Department of Diabetes, Metabolism and Endocrinology, School of Medicine, International University of Health and Welfare, Japan
  • Oshima Junko
    Department of Pathology, University of Washington, USA
  • Abe Koji
    Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Japan

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Abstract

<p>Werner syndrome (WS) is an autosomal recessive progeroid disorder caused by mutations in the WRN gene (WRN). Most Japanese WS patients are born from a consanguineous marriage with homozygous WRN mutations. We herein report a rare WS patient born from non-consanguineous parents with compound heterozygous WRN mutations with a novel heterogeneous c.1720+1G>A substitution plus the most frequent heterogeneous c.3139-1G>C substitution among Japanese. Although the present case showed clinical characteristics common to previous Japanese WS patients, he had not developed any malignant tumors as of 43 years of age, suggesting that WS patients with this particular genetic mutation have a different phenotype than others. </p>

Journal

  • Internal Medicine

    Internal Medicine 58 (7), 1033-1036, 2019-04-01

    The Japanese Society of Internal Medicine

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