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US 2010/0248235 A1Published application
Biomarkers for autism spectrum disorders
OwnerStephen W. Scherer, John B. Vincentinventors
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Abstract
Methods of determining the risk of ASD in an individual are provided which comprise identifying the presence of one or more genomic mutations in one or more of the genes, PTCHD1, SHANK3, NFIA, DPP6, DPP10, DYPD, GPR98, PQBP1, ZNF41 and FTSJ1.
Claims33
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A method of determining the risk of ASD in an individual comprising:
- probing a nucleic acid-containing sample obtained from the individual for a genomic sequence mutation in at least one gene selected from the group consisting of PTCHD1, SHANK3, NFIA, DPP6, DYPD, DPP10, GPR98, PQBP1, ZNF41 and FTSJ1, wherein identification of a mutation that modulates the expression of at least one of said genes is indicative of a risk of ASD.
A method of determining the risk of ASD in an individual comprising:
- screening a biological sample from the individual for abnormal levels of at least one gene product expressed by a gene selected from the group consisting of PTCHD1, SHANK3, NFIA, DPP6, DPP10, DYPD, GPR98, PQBP1, ZNF41 and FTSJ1, wherein a determination that at least one of said gene products is expressed at a level that varies from the expression level in a healthy non-ASD individual is indicative of a risk of ASD.
A method of determining the risk of ASD in an individual comprising:
- screening a nucleic acid-containing sample from the individual for at least one genomic sequence variation that modulates the expression of PTCHD1, wherein identification of at least one of said genomic sequence variations is indicative of a risk of ASD in the individual.
Dependencies are inferred from the claim text.