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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 20/12/2013
Symbol OPMD
Location 14q11.2
Name oculopharyngeal muscular dystrophy
Corresponding gene PABPN1
Main clinical features
  • disease usually presenting in the 5th or 6th decades of life PMID:21742497
  • progressive eyelid drooping, swallowing difficulties and proximal limb weakness
  • characterized by adult onset dysphagia, ptosis, proximal limb weakness and unique nuclear filament inclusions in skeletal muscle fibers
  • in fifth or sixth decades with initial symptoms of dysphagia and ptosis caused by weakening of the pharyngeal and ocular muscles, respectively
    • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    repeat expansion     with a short expansion (8-13) of a 5' GCG repeat (PABPN1), not essential to induce polymerization into filamentous nuclear inclusions
    missense     c.35G>C; p.Gly12Ala PMID:21742497
    Remark(s)
  • abnormal expansion of a polyalanine tract-encoding (GCG)n trinucleotide repeat in the poly-(A) binding protein nuclear 1
  • filament inclusions in skeletal muscle fibers due to aggregation of mutated PABPN1
  • mutant PABPN1accumulates in intranuclear inclusions (large expansions of more than 24 alanines result in the nuclear accumulation of PABPN1 in SFRS2-positive functional speckles and a significant decline in cell survival) (PMID: 18367172))