title: Transthyretin mutation (TTRGly47Ala) associated with familial amyloid polyneuropathy in a French family.
abstract: 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.
authors.affiliation: Service de Médecine Interne et Immunologie Clinique, Centre Hospitalo-Universitaire Jean Minjoz, Besançon, France. NMagy@aol.com
authors.forename: Nadine
authors.initials: N
authors.lastname: Magy
authors.forename: Sophie
authors.initials: S
authors.lastname: Valleix
authors.forename: Gilles
authors.initials: G
authors.lastname: Grateau
authors.forename: Marie-Paule
authors.initials: MP
authors.lastname: Algros
authors.forename: Romain
authors.initials: R
authors.lastname: Guillemain
authors.forename: Bernadette
authors.initials: B
authors.lastname: Kantelip
authors.forename: Marc
authors.initials: M
authors.lastname: Delpech
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Dupond
mesh_terms: 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
chemical_list: D011228:Prealbumin; D000409:Alanine; D005998:Glycine