Genetic markers associated with intellectual disability
AssigneeCentre for Addiction and Mental Health
InventorJohn B. Vincent
Life of this patent
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Abstract
Genetic markers associated with intellectual disability as well as compositions, methods and kits for screening for genetic markers of intellectual disability, diagnosing intellectual disability and identifying individuals with a predisposition for offspring suffering from intellectual disability are provided.
Claims19
A probe which detects a genetic marker for intellectual disability comprising a mutant NSUN2 gene or a mutant polypeptide encoded thereby, said mutant comprising a point mutation in exon 19 of the NSUN2 gene resulting in a missense mutation in the polypeptide encoded thereby, wherein said probe is detectably labeled or bound to a substrate.
A primer pair which amplifies a genetic marker for intellectual disability comprising a mutant NSUN2 gene or a mutant polypeptide encoded thereby, said mutant comprising a point mutation in exon 19 of the NSUN2 gene resulting in a missense mutation in the polypeptide encoded thereby.
A synthetic polynucleotide comprising:
- (a) a nucleic acid sequence of SEQ ID NO:2;
- (b) a nucleic acid sequence encoding the amino acid sequence of SEQ ID NO:4;
- (c) a nucleic acid sequence that selectively hybridizes to the nucleic acid sequence of (a) or (b);
- or
- (d) a nucleic acid sequence having at least 90% sequence identity to the nucleic acid molecule of (a).
An isolated polypeptide comprising the amino acid sequence of SEQ ID NO:4.
An antibody produced against a polypeptide encoded by a mutant NSUN2 gene or a fragment thereof, said antibody specifically recognizing the mutant polypeptide.
A kit to screen an individual for a genetic marker associated with intellectual disability, identify genetically individuals suffering from intellectual disability, and/or identify individuals predisposed genetically to offspring suffering from intellectual disability, said kit comprising a means for detecting a genetic marker for intellectual disability comprising a mutant NSUN2 gene or a mutant polypeptide encoded thereby, said mutant comprising a point mutation in exon 19 of the NSUN2 gene resulting in a missense mutation in the polypeptide encoded thereby.
Dependencies are inferred from the claim text.