1. Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35GC; p.Gly12Ala point mutation
- Author
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Joanne Ramsay, Sophie Marks, Göran Darius Hildebrand, David O. Robinson, David Mansfield, David Hilton-Jones, and Dorothy Mechan
- Subjects
Male ,Neuromuscular disease ,Nonsense mutation ,DNA Mutational Analysis ,Glycine ,Biology ,Poly(A)-Binding Protein II ,Oculopharyngeal muscular dystrophy ,Exon ,Muscular Dystrophy, Oculopharyngeal ,medicine ,Missense mutation ,Humans ,Point Mutation ,Muscular dystrophy ,Muscle, Skeletal ,Genetics (clinical) ,Aged ,Genetics ,Alanine ,Point mutation ,medicine.disease ,Neurology ,Pediatrics, Perinatology and Child Health ,Mutation (genetic algorithm) ,Female ,Neurology (clinical) - 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.
- Published
- 2011