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Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings
Author(s) -
Ferlini Alessandra,
Salvi Fabrizio,
Uncini Antonino,
ElChami Jasmin,
Winter Pia,
Altland Klaus,
Repetto Monica,
Littardi Massimo,
Campoleoni Andrea,
Vezzoni Paolo,
Patrosso Maria Cristina
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb04317.x
Subject(s) - loss of heterozygosity , transthyretin , mutation , genetics , heterozygote advantage , biology , medicine , endocrinology , genotype , allele , gene
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.