A Japanese Family of Typical Loeys-Dietz Syndrome with a TGFBR2 Mutation

Yosuke Togashi, Hiroto Sakoda, Akira Nishimura, Naomichi Matsumoto, Hisatoyo Hiraoka, Yuji Matsuzawa

Research output: Contribution to journalArticlepeer-review

10 Citations (Scopus)


This report describes a Japanese family with vessel and craniofacial abnormalities. Although the clinical findings of the patient's father fulfilled the diagnostic criteria for Marfan syndrome, arterial tortuosity, aneurysms, hypertelorism and a bifid uvula were noted in both the patient and his father. These findings were compatible with the clinical manifestations that were previously reported in Loeys-Dietz syndrome. A molecular genetic analysis demonstrated a heterozygous missense mutation of the transforming growth factorbeta receptor II gene in both the patient and his father, which thus caused Loeys-Dietz syndrome. This is the first Japanese family case report of typical Loeys-Dietz syndrome.

Original languageEnglish
Pages (from-to)1995-2000
Number of pages6
JournalInternal Medicine
Issue number24
Publication statusPublished - 2007
Externally publishedYes


  • Aortic aneurysm and dissection
  • Arterial tortuosity
  • Loeys-Dietz syndrome
  • Marfan syndrome
  • Transforming growth factor-beta receptor

ASJC Scopus subject areas

  • Internal Medicine


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