Transthyretin mutation (TTRGly47Ala) associated with familial amyloid polyneuropathy in a French family.
A French family in which three individuals had familial amyloid polyneuropathy (FAP) was investigated. The proband presented cardiomyopathy with atrial arrhythmia and then developed axonal polyneuropathy, carpal tunnel syndrome, and sclerodactyly. Nucleotide sequencing of exons 2, 3 and 4 of the transthyretin (TTR) gene revealed heterozygosity for a single base change in the second position of codon 47. This G to C transversion predicts replacement of a glycine by an alanine at position 47 in the mature protein. This mutation (G47A) was previously identified in two different families of Italian origin both of which had FAP and cardiomyopathy. Here we report the first identification of this mutation in a non-Italian family.
Magy
Nadine
N
Service de Médecine Interne et Immunologie Clinique, Centre Hospitalo-Universitaire Jean Minjoz, Besançon, France. NMagy@aol.com
Valleix
Sophie
S
Grateau
Gilles
G
Algros
Marie-Paule
MP
Guillemain
Romain
R
Kantelip
Bernadette
B
Delpech
Marc
M
Dupond
Jean-Louis
JL
D000328:Adult; D000409:Alanine / Q000235:genetics*; D017772:Amyloid Neuropathies / Q000235:genetics*; D028226:Amyloidosis, Familial / Q000235:genetics*; D005260:Female; D005602:France; D005998:Glycine / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011228:Prealbumin / Q000235:genetics*; D017422:Sequence Analysis, DNA
D011228:Prealbumin; D000409:Alanine; D005998:Glycine