Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis.
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Patrosso MC, Salvi F, De Grandis D, Vezzoni P, Jacobson DR, Ferlini A
Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis.
Am J Med Genet. 1998 May 1;77(2):135-8.
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- 9605286 [ View in PubMed]
- Abstract
We report on the genetic and molecular characterisation of an Italian family with a late-onset, autosomal dominant transthyretin amyloidosis. The transthyretin gene was analysed by polymerase chain reaction (PCR), restriction generating PCR, and sequencing, allowing us to discover in one allele a novel point mutation. It consists of a G to C transversion at position 1692 of the genomic sequence, leading to a Thr for Arg substitution at the position 34 of the polypeptidic chain. This mutation is associated with a severe sensory-motor peripheral neuropathy and a restrictive cardiomyopathy.