Characteristic clinical features of werner syndrome with a novel compound heterozygous wrn mutation c.1720+1g>a plus c.3139-1g>c

Namiko Matsumoto, Yasuyuki Ohta, Kentaro Deguchi, Masayuki Kishida, Kota Sato, Jingwei Shang, Mami Takemoto, Nozomi Hishikawa, Toru Yamashita, Aki Watanabe, Koutaro Yokote, Minoru Takemoto, Junko Oshima, Koji Abe

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)1033-1036
Number of pages4
JournalInternal Medicine
Volume58
Issue number7
DOIs
Publication statusPublished - Jan 1 2019

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Keywords

  • Compound heterozygous
  • Japanese
  • Werner syndrome

ASJC Scopus subject areas

  • Internal Medicine

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