TY - JOUR
T1 - Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis
AU - Patrosso, M. Cristina
AU - Salvi, Fabrizio
AU - De Grandis, Domenico
AU - Vezzoni, Paolo
AU - Jacobson, Daniel R.
AU - Ferlini, Alessandra
PY - 1998/5/1
Y1 - 1998/5/1
N2 - 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.
AB - 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.
KW - Amyloidosis
KW - Missense mutation
KW - Transthyretin
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U2 - 10.1002/(SICI)1096-8628(19980501)77:2<135::AID-AJMG5>3.0.CO;2-R
DO - 10.1002/(SICI)1096-8628(19980501)77:2<135::AID-AJMG5>3.0.CO;2-R
M3 - Article
C2 - 9605286
AN - SCOPUS:0032080010
SN - 1552-4825
VL - 77
SP - 135
EP - 138
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 2
ER -