Compositions and methods for diagnosing autism

A method for determining whether a person has a genetic abnormality that predisposes such person to autism spectrum disorder, said method comprising:

• examining chromosome 7 of said person, and detecting, where present, the existence of a change in a segment of the genome located in said chromosome 7,
• wherein said segment is set forth in SEQ ID NO:1.

A diagnostic method for determining that a person has a genetic abnormality that predisposes that person to autism spectrum disorder, said method comprising detecting in that person the existence of a mutation in the EN2 gene such that said mutation results in the deletion, addition, or substitution of at least one amino acid in the EN2 protein.

A diagnostic method for determining that a person has a genetic abnormality that predisposes that person to autism spectrum disorder, said method comprising detecting in that person a change with respect to at least one amino acid in the EN2 protein, said change being either an addition, a deletion, or a substitution.

A diagnostic method for determining that a person has a genetic abnormality that predisposes that person to autism spectrum disorder, said method comprising detecting, in tissue or cells from that person, an increase or a decrease in the level of normal RNA transcribed from a portion of chromosome 7 located within the region of the chromosome as set forth in SEQ ID NO:

• 1.

A diagnostic method for determining that a person has a genetic abnormality that predisposes that person to autism spectrum disorder, said method comprising detecting, in tissue or cells from that person, abnormal RNA transcribed from a portion of chromosome 7 located within the region of the chromosome as set forth in SEQ ID NO:

• 1.

A diagnostic method for determining that a person has a genetic abnormality that predisposes that person to autism, said method comprising detecting, in tissue or cells from that person, an increase or a decrease in the level of normal EN2 protein.

A diagnostic method for determining that a person has a genetic abnormality that predisposes that person to autism, said method comprising detecting, in tissue or cells from that person, the EN2 nucleic acid sequence as set forth in SEQ ID NO:

• 1, comprising at least one single nucleotide polymorphism (SNP).

A diagnostic kit for determining the predisposition, the onset or the presence of autism spectrum disorder in a mammal, said kit comprising a nucleic acid hybridization probe that hybridizes to the segment of chromosome 7, comprising the EN2 gene.

A diagnostic kit for determining that a person has a genetic abnormality that predisposes that person to autism, wherein said genetic abnormality comprises a deletion, an addition or a substitution in the segment of chromosome 7 comprising the EN2 gene, said kit comprising a pair of PCR primers with sequences within the region of chromosome 7 as set forth is SEQ ID NO:

• 1.

A diagnostic kit for determining that a person has a genetic abnormality that predisposes that person to autism, said kit comprising an antibody probe that reacts with all or part of the EN2 protein.

A therapeutic process for treating a person inflicted with, or predisposed to, an autism spectrum disorder, said process comprising the step of introducing into said person a DNA molecule encoding a polypeptide, said polypeptide having the sequence set forth in SEQ ID NO:

• 2 and coded for by a gene located on a segment of chromosome 7, said gene having the sequence as set forth in SEQ ID NO:1.

A therapeutic process for treating a person inflicted with or predisposed to a developmental disorder, said process comprising the step of administering the EN2 protein to a person.

A therapeutic process for treating a person inflicted with, or predisposed to, a developmental disorder, said process comprising the step of administering a drug to a person so as to normalize the level of EN2 protein in a tissue or cell in said person.

A therapeutic process of treating a person inflicted with, or predisposed to, a developmental disorder, said process comprising the step of administering a drug so as to normalize the level of genes that are activated by EN2 protein.