Homozygosity and heterozygosity for the transthyretin Leu64 mutation: Clinical, biochemical and molecular findings

Alessandra Ferlini, Fabrizio Salvi, Antonino Uncini, Jasmin El-Chami, Pia Winter, Klaus Altland, Monica Repetto, Massimo Littardi, Andrea Campoleoni, Paolo Vezzoni, Maria Cristina Patrosso

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)10-14
Number of pages5
JournalClinical Genetics
Volume49
Issue number1
Publication statusPublished - Jan 1996

Keywords

  • Hereditary amyloidosis
  • Homozygosis
  • Transthyretin

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Ferlini, A., Salvi, F., Uncini, A., El-Chami, J., Winter, P., Altland, K., Repetto, M., Littardi, M., Campoleoni, A., Vezzoni, P., & Patrosso, M. C. (1996). Homozygosity and heterozygosity for the transthyretin Leu64 mutation: Clinical, biochemical and molecular findings. Clinical Genetics, 49(1), 10-14.