Compositions and Methods for Diagnosing Autism
OwnerJames H. Millonig, Linda Brzustowicz +1inventors
InventorsJames H. Millonig, Linda Brzustowicz, Neda Gharani
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Abstract
Mutations located within the gene encoding the homeobox transcription factor, ENGRAILED 2 (EN2), have now been identified as molecular markers associated with susceptibility for autism and related disorders. Thus, the present invention relates to compositions in the form of diagnostic kits, primers and target sequences, for use in methods for determining the predisposition, the onset or the presence of autism spectrum disorder in a mammal. Moreover, therapeutic methods for treating a person inflicted with, or predisposed to, an autism spectrum disorder based upon modulating the level or activity of EN2 are also provided.
Claims10
A method for diagnosing the predisposition for developing autism spectrum disorder in a human comprising,
- obtaining a sample from a human subject, said sample comprising the ENGRAILED 2 intronic sequence of SEQ ID NO:11;
- and
- detecting in said intronic sequence the presence of at least one single nucleotide polymorphism indicative of the predisposition for developing autism spectrum disorder.
A diagnostic kit comprising one or more oligonucleotide primers hybridizable at or near a single nucleotide polymorphism in the ENGRAILED 2 intronic sequence of SEQ ID NO:11.
A method for identifying subjects most likely to respond to treatment for an autism spectrum disorder comprising
- obtaining a sample from a human subject, said sample comprising the ENGRAILED 2 intronic sequence of SEQ ID NO:11;
- and
- detecting in said intronic sequence the presence of at least one single nucleotide polymorphism indicative of the predisposition for developing autism spectrum disorder, wherein the presence of the at least one single nucleotide polymorphism identifies said subject as most likely to respond to treatment for an autism spectrum disorder.
Dependencies are inferred from the claim text.