A new ATTR Phe64Ile mutation with late-onset multiorgan involvement.
We describe a novel transthyretin mutation in which phenylalanine is replaced with isoleucine in exon 3 at codon 64: Phe64Ile. The mutation was found in an isolated patient and it was not possible to perform a family study. The phenotype included heart and peripheral nerve involvement associated with a possible gastrointestinal and renal involvement.
Tarquini
Roberto
R
Dipartimento di Medicina Interna, Azienda Universitaria Ospedaliera Careggi, Florence, Italy.
Perfetto
Federico
F
Bergesio
Franco
F
Miliani
Anna
A
Del Pace
Stefano
S
Frusconi
Sabrina
S
Minuti
Barbara
B
Pelo
Elisabetta
E
Torricelli
Francesca
F
D000368:Aged; D028226:Amyloidosis, Familial / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D009202:Cardiomyopathies / Q000235:genetics / Q000473:pathology; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D004452:Echocardiography; D005091:Exons / Q000235:genetics; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010649:Phenylalanine / Q000235:genetics; D011228:Prealbumin / Q000235:genetics*
D003062:Codon; D011228:Prealbumin; D007532:Isoleucine; D010649:Phenylalanine