A novel transthyretin Lys70Glu (p.Lys90Glu) mutation presenting with vitreous amyloidosis and carpal tunnel syndrome

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis
Virpi Elisa RaivioTero Kivelä

Abstract

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

References

Sep 1, 1999·Proceedings of the National Academy of Sciences of the United States of America·E H KooJ W Kelly
Dec 25, 2007·The British Journal of Ophthalmology·Maria Elena GregoryJulian David Gillmore

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Citations

Dec 13, 2019·Seminars in Ophthalmology·Rosanna DammaccoFranco Dammacco

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