A new transthyretin variant Leu55Gln in a patient with systemic amyloidosis

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

doi:10.3109/13506120209114105

A new transthyretin variant Leu55Gln in a patient with systemic amyloidosis

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

^*Corresponding author for this work

Dermatology

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

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 language	English (US)
Pages (from-to)	268-271
Number of pages	4
Journal	Amyloid
Volume	9
Issue number	4
DOIs	https://doi.org/10.3109/13506120209114105
State	Published - Dec 2002

Funding

This work was supported by NIH grants PHS AG 10 133, DK42 1 1 1, and RR-00750, Veterans Affairs Medical Research, the Marion E. Jacobson Fund, and the Machado Family Research Fund.

Keywords

Amyloidosis
Glaucoma
Polyneuropathy
Transthyretin

ASJC Scopus subject areas

Internal Medicine

Access to Document

10.3109/13506120209114105

Cite this

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title = "A new transthyretin variant Leu55Gln in a patient with systemic amyloidosis",

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.",

keywords = "Amyloidosis, Glaucoma, Polyneuropathy, Transthyretin",

author = "Masahide Yazaki and John Varga and Dyck, {P. James B} and Benson, {Merrill D.}",

note = "Funding Information: This work was supported by NIH grants PHS AG 10 133, DK42 1 1 1, and RR-00750, Veterans Affairs Medical Research, the Marion E. Jacobson Fund, and the Machado Family Research Fund.",

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doi = "10.3109/13506120209114105",

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AU - Yazaki, Masahide

AU - Varga, John

AU - Dyck, P. James B

AU - Benson, Merrill D.

N1 - Funding Information: This work was supported by NIH grants PHS AG 10 133, DK42 1 1 1, and RR-00750, Veterans Affairs Medical Research, the Marion E. Jacobson Fund, and the Machado Family Research Fund.

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N2 - 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.

AB - 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.

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KW - Glaucoma

KW - Polyneuropathy

KW - Transthyretin

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A new transthyretin variant Leu55Gln in a patient with systemic amyloidosis

Abstract

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Keywords

ASJC Scopus subject areas

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