Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy is unlikely to be caused by triplet repeat expansions

• Tipo: Artigo em Revista Científica Internacional
• Data: 1999

Autores

Soares, M (Autor) Outra; Buxbaum, J (Autor) Outra; Sirugo, G (Autor) Outra; Coelho, T (Autor) Outra; Alda Sousa (Autor) ICBAS; Kastner, D (Autor) Outra; Maria Joao Saraiva (Autor) ICBAS

Revista

Título: Human Genetics

Vol. 104

Páginas: 480-485

ISSN: 0340-6717

Editora: Springer Nature

Indexação

ISI Web of Knowledge - 27 Citações

Scopus - 31 Citações

Outras Informações

ID Authenticus: P-001-468

DOI: 10.1007/s004390050991

Abstract (EN): Familial amyloidotic polyneuropathy (FAP) is a lethal autosomal dominant type of amyloidosis resulting from the deposition of transthyretin (ATTR) variants in the peripheral and autonomic nervous systems. ATTR V30M-associated FAP exhibits marked genetic anticipation in some families, with clinical symptoms developing at an earlier age in successive generations. The genetic basis of this phenomenon in FAP is unknown. Anticipation has been associated with the dynamic expansion of trinucleotide repents in several neurodegenerative disorders, such as Huntington disease, myotonic dystrophy, and fragile X syndrome. We have used the repeat expansion detection (RED) assay to screen affected members of Portuguese FAP kindreds for expansion of any of the ten possible trinucleotide repeats. Nine generational pairs with differences in their age of onset greater than 12 years and a control pair with identical ages of onset were tested. No major differences were found in the lengths of the ten trinucleotide repeats analyzed, The distribution of the maximal repeat sizes was consistent with reported studies in unrelated individuals with no known genetic disease, The present data do not support a role for trinucleotide repeat expansions as the molecular mechanism underlying anticipation in Portuguese FAP.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 6