A new transthyretin variant Leu55Gln in a patient with systemic amyloidosis.
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.
Yazaki
Masahide
M
Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, 975 West Walnut Street, IB-503, Indianapolis, IN 46202, USA.
Varga
John
J
Dyck
P James B
PJ
Benson
Merrill D
MD
D000686:Amyloidosis / Q000235:genetics*; D005260:Female; D005998:Glycine / Q000235:genetics*; D006801:Humans; D007930:Leucine / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D011228:Prealbumin / Q000235:genetics*; D017422:Sequence Analysis, DNA
D011228:Prealbumin; D007930:Leucine; D005998:Glycine