A new transthyretin variant Leu55Gln in a patient with systemic amyloidosis

Masahide Yazaki, John Varga, P. James B. Dyck, Merrill D. Benson

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Abstract

We report a 40-year-old woman with a new transthyretin (TTR) variant, glutamine replacing leucine at residue 55 (Leu55Gln), who showed progressive somatic and autonomic neuropathy, glaucoma, and vitreous opacities. Symptoms of glaucoma appeared prior to the onset of the neuropathy. Sural nerve biopsy revealed amyloid deposition in the endoneurium, and immunohistochemical analysis was positive with anti-human TTR. Sequencing of the patient's DNA revealed the substitution of A for T at the second position of codon 55 of the TTR gene indicating an amino acid change from leucine to glutamine.

Original languageEnglish (US)
Pages (from-to)268-271
Number of pages4
JournalAmyloid
Volume9
Issue number4
DOIs
StatePublished - Dec 2002

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Keywords

  • Amyloidosis
  • Glaucoma
  • Polyneuropathy
  • Transthyretin

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medicine(all)

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