title: Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings.
abstract: Transthyretin gene point mutations cause hereditary amyloidosis with an autosomal dominant pattern of inheritance. The disease usually manifests itself in heterozygous patients, although a few homozygotes have been reported. We describe two unrelated patients carrying the Leu64 mutation, one of whom presents a homozygous genotype (Family B). Homozygosity was confirmed by sequence analysis, RG-PCR and double one-dimensional electrophoresis of the plasma protein. Although the clinical picture of the homozygous patient of Family B was more severe than that shown by the heterozygous members of Family A, the variability often displayed by FAP patients does not allow any firm conclusion about the role of homozygosity in the seriousness of the disease.
authors.affiliation: Neuromuscular Unit, Hammersmith Hospital, London, UK.
authors.forename: A
authors.initials: A
authors.lastname: Ferlini
authors.forename: F
authors.initials: F
authors.lastname: Salvi
authors.forename: A
authors.initials: A
authors.lastname: Uncini
authors.forename: J
authors.initials: J
authors.lastname: el-Chami
authors.forename: P
authors.initials: P
authors.lastname: Winter
authors.forename: K
authors.initials: K
authors.lastname: Altland
authors.forename: M
authors.initials: M
authors.lastname: Repetto
authors.forename: M
authors.initials: M
authors.lastname: Littardi
authors.forename: A
authors.initials: A
authors.lastname: Campoleoni
authors.forename: P
authors.initials: P
authors.lastname: Vezzoni
authors.forename: M C
authors.initials: MC
authors.lastname: Patrosso
mesh_terms: D000368:Aged; D000686:Amyloidosis / Q000235:genetics*; D001483:Base Sequence; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007930:Leucine; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D017354:Point Mutation; D011228:Prealbumin / Q000235:genetics*
chemical_list: D009838:Oligodeoxyribonucleotides; D011228:Prealbumin; D007930:Leucine