Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis

M. Cristina Patrosso, Fabrizio Salvi, Domenico De Grandis, Paolo Vezzoni, Daniel R. Jacobson, Alessandra Ferlini

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)135-138
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume77
Issue number2
DOIs
Publication statusPublished - May 1 1998

Keywords

  • Amyloidosis
  • Missense mutation
  • Transthyretin

ASJC Scopus subject areas

  • Genetics(clinical)

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