title: Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis.
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.
authors.affiliation: Istituto di Technologie Biomediche Avanzate, CNR Milano, Italy.
authors.forename: M C
authors.initials: MC
authors.lastname: Patrosso
authors.forename: F
authors.initials: F
authors.lastname: Salvi
authors.forename: D
authors.initials: D
authors.lastname: De Grandis
authors.forename: P
authors.initials: P
authors.lastname: Vezzoni
authors.forename: D R
authors.initials: DR
authors.lastname: Jacobson
authors.forename: A
authors.initials: A
authors.lastname: Ferlini
mesh_terms: D000368:Aged; D000686:Amyloidosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D011228:Prealbumin / Q000235:genetics*; D013912:Threonine / Q000235:genetics
chemical_list: D011228:Prealbumin; D013912:Threonine