title: A novel transthyretin Lys70Glu (p.Lys90Glu) mutation presenting with vitreous amyloidosis and carpal tunnel syndrome.
abstract: OBJECTIVE
  We describe a novel TTR mutation with vitreous opacities and carpal tunnel syndrome.
  
  
  METHODS
  A 78 year-old woman with vitreous opacities, her daughter with dry eye syndrome, and brother with carpal tunnel syndrome were tested for a mutation in the TTR gene. The vitreous opacities were removed and stained with Congo red and immunohistochemistry against wild type TTR. Skin and gut biopsies and specimens of soft tissue were examined histopathologically. Leukocyte DNA from the proband was analysed by direct sequencing of exons 1 to 4 of the TTR gene and DNA from her daughter and brother using segregation analysis.
  
  
  RESULTS
  A point mutation c.268 A>C, in the TTR gene, leading to a missense mutation p.Lys90Glu was found in all subjects. The vitreous opacities were pearl string-like. Histopathology showed red to green birefringence in Congo red, typical to amyloid, and the specimens were immunoreactive with antibodies against TTR.
  
  
  CONCLUSIONS
  We present a novel autosomally inherited Lys90Glu mutation in the TTR gene. This is the first reported FAP family with this mutation in Finland.
authors.affiliation: a Department of Ophthalmology , Helsinki University Central Hospital , Helsinki , Finland .
authors.forename: Virpi Elisa
authors.initials: VE
authors.lastname: Raivio
authors.affiliation: b Department of Clinical Genetics , Laboratory Medicine, Umeå University Hospital , Umeå , Sweden .
authors.forename: Jenni
authors.initials: J
authors.lastname: Jonasson
authors.affiliation: c Department of Pathology , University of Helsinki, Haartman Institute , Helsinki , Finland .|d Department of Pathology , Helsinki University Central Hospital , Helsinki , Finland .
authors.forename: Liisa
authors.initials: L
authors.lastname: Myllykangas
authors.affiliation: e Norio Centre, Rinnekoti Foundation , Helsinki , Finland .
authors.forename: Sirpa
authors.initials: S
authors.lastname: Ala-Mello
authors.affiliation: f Clinical Genetics Unit, Turku University Hospital , Turku , Finland .
authors.forename: Minna
authors.initials: M
authors.lastname: Kankuri-Tammilehto
authors.affiliation: g Department of Neurology , Helsinki University Central Hospital , Helsinki , Finland , and.
authors.forename: Sari
authors.initials: S
authors.lastname: Kiuru-Enari
authors.affiliation: h Department of Immunology , Genetics and Pathology, Uppsala University , Sweden , Uppsala.
authors.forename: Per
authors.initials: P
authors.lastname: Westermark
authors.affiliation: c Department of Pathology , University of Helsinki, Haartman Institute , Helsinki , Finland .
authors.forename: Maarit
authors.initials: M
authors.lastname: Tanskanen
authors.affiliation: a Department of Ophthalmology , Helsinki University Central Hospital , Helsinki , Finland .
authors.forename: Tero
authors.initials: T
authors.lastname: Kivelä
mesh_terms: D000328:Adult; D000368:Aged; D028226:Amyloidosis, Familial / Q000175:diagnosis* / Q000235:genetics; D002349:Carpal Tunnel Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D011228:Prealbumin / Q000235:genetics*; D014822:Vitreous Body / Q000473:pathology
chemical_list: D011228:Prealbumin
keywords: Intraocular opacity; point mutation; transthyretin