Compositions And Methods For Diagnosing Autism Spectrum Disorders
First Claim
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1. A method for diagnosing the presence or an increased risk of developing an autism spectrum disorder in a subject, the method comprising:
- obtaining a nucleic acid from a tissue or body fluid sample from a subject;
conducting an assay to identify whether there is a variant sequence, or a plurality of variant sequences, in the subject'"'"'s nucleic acid;
for each variant detected, determining if the variant is a known variant associated with an autism spectrum disorder or a previously undescribed variant;
if the variant is a previously undescribed variant, determining if the variant is expected to have a deleterious effect on at least one of gene expression and/or protein function; and
diagnosing the presence or an increased risk of developing the autism spectrum disorder based on the variant sequence or the plurality of variant sequences detected.
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Abstract
The invention generally relates to compositions and methods for diagnosing autism spectrum disorders. In certain embodiments, the invention provides a method for diagnosing presence or increased risk of developing an autism spectrum disorder in a subject.
52 Citations
29 Claims
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1. A method for diagnosing the presence or an increased risk of developing an autism spectrum disorder in a subject, the method comprising:
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obtaining a nucleic acid from a tissue or body fluid sample from a subject; conducting an assay to identify whether there is a variant sequence, or a plurality of variant sequences, in the subject'"'"'s nucleic acid; for each variant detected, determining if the variant is a known variant associated with an autism spectrum disorder or a previously undescribed variant; if the variant is a previously undescribed variant, determining if the variant is expected to have a deleterious effect on at least one of gene expression and/or protein function; and diagnosing the presence or an increased risk of developing the autism spectrum disorder based on the variant sequence or the plurality of variant sequences detected. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20)
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21. A method for identifying mutations correlated with the presence or increased risk of developing an autism spectrum disorder, the method comprising:
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identifying a nucleic acid to be evaluated as having a sequence that if mutated may be or is associated with the development of autism; obtaining a nucleic acid sample from a tissue or body fluid sample from a subject having an autism spectrum disorder; and conducting an assay to identify whether there is a mutation in the nucleic acid sequence in the subject having autism as compared to the nucleic acid sequence in individuals who do not have an autism spectrum disorder, wherein the presence of the mutation in a subject with an autism spectrum disorder indicates that the mutation may be associated with the development of the autism spectrum disorder. - View Dependent Claims (22, 23, 24, 25, 26)
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- 27. An isolated nucleic acid comprising a variant sequence from at least one of the following genes, TSC1, TSC2, MECP2, SHANK3, GRM1, GRM5, ARC, EIF4E, HOMER1, HRAS, MAP2K1, MAP2K2, RAF1, PIK3CA, PIK3R1, FMR1, PTEN, RHEB or UBE3A, wherein the sequence comprises a variant that is indicative of an autism spectrum disorder.
Specification