A new transthyretin variant--ATTR Arg104Cys.
We report the genetic characterization of a transthyretin variant previously detected by mutation scanning employing single strand conformation polymorphism analysis in patients with peripheral neuropathies. A substitution of a thymine for cytosine resulting in the replacement of an arginine with cysteine at position 104 of the polypeptide chain was found both by DNA sequencing and restriction fragment length polymorphism analysis. The propositus presented a sensory axonal neuropathy, no neurological abnormalities in the upper limbs nor autonomic involvement. No evidence for amyloid deposition was found in either muscle and nerve biopsies. There was no history of amyloidosis in the family. This mutation might be rare in the population and future cases of the mutation will ascertain a relationship with disease.
Saraiva
M J
MJ
Torres
M de F
Mde F
Serra
J
J
Ochoa
J
J
D000368:Aged; D019943:Amino Acid Substitution; D001120:Arginine / Q000737:chemistry / Q000235:genetics; D003545:Cysteine / Q000737:chemistry / Q000235:genetics; D014644:Genetic Variation; D006801:Humans; D008297:Male; D018807:Polymorphism, Single-Stranded Conformational; D011228:Prealbumin / Q000737:chemistry / Q000235:genetics*; D017422:Sequence Analysis, DNA
D011228:Prealbumin; D001120:Arginine; D003545:Cysteine