Abstract for presentation at 11th International Congress of Human Genetics

Detailed Mapping of a Deletion at Chromosome 5q14.3 involving MASS1/VLGR1 in a Patient with Myoclonic Epilepsy

  • Hua Ren, Murdoch Childrens Research Institute, Australia
  • Amber Boys, Genetic Health Service Victoria, Australia
  • David Francis, Genetic Health Service Victoria, Australia
  • Prof Ingrid Scheffer, Department of Medicine (Neurology), The University of Melbourne and Austin Health, Royal Children's Hospital, Melbourne, Australia
  • Dr Howard Slater, Murdoch Children's Research Institute, Royal Children’s Hospital, Melbourne, Victoria., Australia

    • Epilepsy is a debilitating neurological condition affecting up to 1% of people worldwide. An estimated 40% of the cases are genetically determined and for these an accurate characterisation of the underlying mutations is crucial for correct clinical diagnosis and improvements in treatment. We mapped a novel deletion at chromosome 5q14.3 in a patient with complex phenotype including severe myoclonic epilepsy and a candidate gene for myoclonic epilepsy.
    Purpose: To identify candidate genes for myoclonic epilepsy. Methods: 1. Affymetrix GeneChip 100K mapping array; 2. PCR-fragment spotting microarrays; 3. DNA sequencing. Results: The patient has a 9Mb deletion at 5q14.3. The distal breakpoint is within MASS1/VLGR1 which is partially deleted. The breakpoint is located in the intron between exons 85 and 86. Conclusions: MASS1/VLGR1, a large transmembrane receptor gene, has already been identified as a candidate gene for epilepsy through a homozygous, single base pair mutation with audiogenic seizures in the Frings mouse and through association of a nonsense mutation in one family with febrile and afebrile seizures. This study provides further supportive evidence for involvement of MASS1/VLGR1 in human epilepsy.

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