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

โœ Scribed by Patrosso, M. Cristina; Salvi, Fabrizio; De Grandis, Domenico; Vezzoni, Paolo; Jacobson, Daniel R.; Ferlini, Alessandra

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
11 KB
Volume
77
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19980501)77:2<135::aid-ajmg5>3.0.co;2-r

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โœฆ Synopsis

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.

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