Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation

Robinson, David O., Hilton-Jones, David, Mansfield, David, Hildebrand, Göran Darius, Marks, Sophie, Mechan, Dorothy and Ramsay, Joanne (2011) Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation. Neuromuscular Disorders, 21 (11), 809-811. (doi:10.1016/j.nmd.2011.06.003). (PMID:21742497)

Abstract

Oculopharyngeal muscular dystrophy is a neuromuscular disease usually presenting in the 5th or 6th decades of life with a dominant inheritance pattern. In almost all cases the cause of the disease is the expansion of a DNA repeat sequence containing GCG and GCA codons in exon 1 of the PABPN1 gene from 10 to between 12 and 17 repeats. However one case has been previously reported without the gene expansion but instead with a c.35G > C missense mutation converting a glycine codon to an alanine and resulting in a sequence of 13 contiguous alanine codons, thus mimicking the effect of the common expansion mutation. Here we report two further cases of OPMD caused by the c.35G > C point mutation. Clinical and pedigree data indicate the usual OPMD dominant inheritance pattern.

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