title: Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation.
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.
authors: Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK. David.Robinson@salisbury.nhs.uk
authors: David O
authors: DO
authors: Robinson
authors: David
authors: D
authors: Hilton-Jones
authors: David
authors: D
authors: Mansfield
authors: Göran Darius
authors: GD
authors: Hildebrand
authors: Sophie
authors: S
authors: Marks
authors: Dorothy
authors: D
authors: Mechan
authors: Joanne
authors: J
authors: Ramsay
mesh_terms: D000368:Aged; D000409:Alanine / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005998:Glycine / Q000235:genetics*; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D039141:Muscular Dystrophy, Oculopharyngeal / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation / Q000235:genetics*; D039103:Poly(A)-Binding Protein II / Q000235:genetics*
chemical_list: D039103:Poly(A)-Binding Protein II; D000409:Alanine; D005998:Glycine