A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation

Intern Med. 2007;46(24):1995-2000. doi: 10.2169/internalmedicine.46.0467. Epub 2007 Dec 17.

Abstract

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 factor-beta 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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / genetics*
  • Diagnosis, Differential
  • Humans
  • Hypertelorism / diagnosis
  • Hypertelorism / genetics*
  • Male
  • Marfan Syndrome / classification
  • Marfan Syndrome / diagnosis
  • Marfan Syndrome / genetics
  • Middle Aged
  • Mutation, Missense / genetics
  • Pedigree
  • Protein Serine-Threonine Kinases / genetics*
  • Receptor, Transforming Growth Factor-beta Type II
  • Receptors, Transforming Growth Factor beta / genetics*
  • Syndrome
  • Uvula / abnormalities
  • Vascular Malformations / diagnosis
  • Vascular Malformations / genetics*

Substances

  • Receptors, Transforming Growth Factor beta
  • Protein Serine-Threonine Kinases
  • Receptor, Transforming Growth Factor-beta Type II