title: Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene.
abstract: Oculopharyngeal muscular dystrophy (OPMD) is a late onset autosomal dominant muscle disorder. The OPMD-locus has been mapped to chromosome 14q11.2-q13. The polyadenylate binding protein nuclear 1 (PABPN1; PABP2) gene has been identified as the mutated gene. The mutation consists of a short meiotically stable trinucleotide repeat in the first exon of PABPN1 gene. We have investigated Dutch OPMD patients from four unrelated families and identified a new mutation in two of the four families. Instead of a repeat expansion we found a duplication in the first exon of the PABPN1 gene (c.27_28ins12, p.11_12insAAAA). The identification of this new mutation supports the theory of unequal crossing-over as molecular mechanism causing the mutation in the PABPN1 gene responsible for OPMD, and not the slippage model.
authors.affiliation: Institute of Neurology, University Medical Centre Nijmegen, The Netherlands. B.vanderSluijs@czzoneu.azn.nl
authors.forename: Barbara M
authors.initials: BM
authors.lastname: van der Sluijs
authors.forename: Baziel G M
authors.initials: BG
authors.lastname: van Engelen
authors.forename: Lies H
authors.initials: LH
authors.lastname: Hoefsloot
mesh_terms: D000368:Aged; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008297:Male; D008875:Middle Aged; D039141:Muscular Dystrophy, Oculopharyngeal / Q000235:genetics*; D009154:Mutation; D010455:Peptides / Q000235:genetics; D039103:Poly(A)-Binding Protein II / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: D010455:Peptides; D039103:Poly(A)-Binding Protein II; C019529:polyalanine; D004247:DNA