Short GCG expansions in the PAB II gene for oculopharyngeal muscular dystrophy and diagnostic thereof

Abstract

Mutations within the poly(A) binding protein II (PAB II) gene deterministic for the condition of oculopharyngeal muscular dystrophy (OPMD) are described. These mutations are short, stable, expansions of a trinucleotide repeat (GCG) within exon 1 of the gene. These findings will be of diagnostic value to clinicians and will permit genotype phenotype correlations in OPMD. They are the prelude to the generation of animal models of OPMD, which will facilitate increased understanding of OPMD pathogenesis and the design and testing of potential therapeutic agents. Such agents may also be applicable to other trinucleotide expansion disorders characterised by intranuclear inclusions, and possibly to other ‘conformational diseases’ with intra- or extracellular protein aggregations.

• aggregation
• diagnosis
• oculopharyngeal muscular dystrophy (OPMD)
• poly(A) binding protein II (PAB II) gene
• treatment
• trinucleotide expansion