RT Journal Article SR Electronic T1 Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP e23 OP e23 DO 10.1136/jmg.2005.037598 VO 43 IS 5 A1 D O Robinson A1 A J Wills A1 S R Hammans A1 S P Read A1 J Sillibourne YR 2006 UL http://jmg.bmj.com/content/43/5/e23.abstract AB Background: Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant late onset neuromuscular disease characterised by proximal muscle weakness, ptosis, and swallowing difficulty. The only causative mutation described to date is a triplet repeat expansion consisting of two to seven additional base triplets in a repeat sequence in exon 1 of the polyadenine binding protein nuclear 1 (PABPN1) gene. This results in an increase in length of a polyalanine tract in the PABPN1 protein from 10 to 12–17 residues. Objective: Description of another mutation in a case of OPMD. Methods: Sequence analysis of exon 1 of the PABPN1 gene was undertaken on 202 patients referred for a possible diagnosis of OPMD but negative for the triplet repeat expansion mutation. Results: A case was identified with typical symptoms of OPMD, negative for the repeat expansion mutation but with a missense mutation in PABPN1 close to the 3′ end of the normal polyalanine codon repeat sequence. Conclusions: The single base mutation changes a glycine codon to an alanine codon and results in an increase in the number of contiguous polyalanine codons. This mimics the effect of the common triplet repeat expansion mutation and represents a previously undescribed mechanism of mutation.