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A novel transthyretin Lys70Glu (p.Lys90Glu) mutation presenting with vitreous amyloidosis and carpal tunnel syndrome
Helsinki Univ Cent Hosp, Dept Ophthalmol, Haartmaninkatu 4 C,PL 220, FI-00029 Helsinki, Finland..
Umea Univ Hosp, Dept Clin Genet, Lab Med, S-90185 Umea, Sweden..
Univ Helsinki, Dept Pathol, Haartman Inst, Helsinki, Finland.;Helsinki Univ Cent Hosp, Dept Pathol, FI-00029 Helsinki, Finland..
Rinnekoti Fdn, Norio Ctr, Helsinki, Finland..
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2016 (English)In: Amyloid: Journal of Protein Folding Disorders, ISSN 1350-6129, E-ISSN 1744-2818, Vol. 23, no 1, 46-50 p.Article in journal (Refereed) Published
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Abstract [en]

Objective: We describe a novel TTR mutation with vitreous opacities and carpal tunnel syndrome. Materials and 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. Conclusion: We present a novel autosomally inherited Lys90Glu mutation in the TTR gene. This is the first reported FAP family with this mutation in Finland.

Place, publisher, year, edition, pages
2016. Vol. 23, no 1, 46-50 p.
Keyword [en]
Intraocular opacity, point mutation, transthyretin
National Category
Medical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy)
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URN: urn:nbn:se:uu:diva-283676DOI: 10.3109/13506129.2015.1126574ISI: 000371592800007PubMedID: 26828956OAI: oai:DiVA.org:uu-283676DiVA: diva2:919505
Available from: 2016-04-14 Created: 2016-04-14 Last updated: 2017-11-30Bibliographically approved

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Westermark, Per

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Department of Immunology, Genetics and Pathology
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Amyloid: Journal of Protein Folding Disorders
Medical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy)

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