Lafora's disease gene
AssigneeThe Hospital for Sick Children
InventorsStephen Scherer, Berge Minassian
Life of this patent
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Abstract
A novel gene (EPM2B) that is mutated in humans and dogs with Lafora's disease is described.
Claims46
An isolated nucleic acid molecule encoding a protein with a RING-finger domain and 6 NHL-motifs wherein the protein is associated with Lafora's disease.
A method of detecting Lafora's disease in a mammal comprising detecting a mutation in a nucleic acid sequence in a sample from a mammal, wherein said nucleic acid sequence is an isolated nucleic acid molecule encoding a protein with a RING-finger domain and 6 NHL-motifs, and wherein the protein is associated with Lafora's disease.
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An isolated protein containing a RING-finger domain and six NHL domains which protein is associated with Lafora's disease.
A method of detecting the presence of absence of a mutation in the nucleic acid sequence set forth in SEQ ID NO:1 or SEQ ID NO:3 comprising the steps of:
- (a) analyzing a test sample containing the EPM2B gene to determine the nucleic acid sequence of the gene;
- (b) comparing the nucleic acid sequence of the gene in the test sample to the nucleic acid sequence set forth in SEQ ID NO:1 or SEQ ID NO:3;
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- (c) determining the differences, if any, between the sequence of the EPM2B gene in the test sample and the nucleic acid sequence set forth in SEQ ID NO:1 or SEQ ID NO:3, thereby detecting the presence of absence of a mutation in the nucleotide sequence set forth in SEQ ID NO:1 or SEQ ID NO:3 in a mammal.
A method for diagnosing the presence of, or predisposition to, Lafora's disease in a mammal comprising:
- (a) obtaining a nucleic acid sample from the mammal;
- (b) analyzing the nucleic acid sample to determine the presence of absence of a EPM2B gene mutation associated with Lafora's disease, wherein the presence of an EPM2B gene mutation associated with Lafora's disease indicates that the mammal is at risk for development of Lafora's disease.
Dependencies are inferred from the claim text.