Patent ID: 7384740

Claim:
A method of diagnosing autism linked to a mutation in the polynucleotide of SEQ ID NO: 12 or the polypeptide of SEQ ID NO: 14, or a propensity therefor, in a human, wherein said mutation results in altered synapse formation, wherein said method comprises (a) detecting a mutation in (i) the polynucleotide of SEQ ID NO: 12, wherein said mutation results in a mutation in the polypeptide encoded thereby at position 451 or 796, or a combination thereof, or (ii) the polypeptide of SEQ ID NO: 14, wherein said mutation is at position 451 or 796, or a combination thereof, wherein said detecting comprises comparing the sequence of the polynucleotide or polypeptide obtained from said human with the polynucleotide of SEQ ID NO: 12 or the polypeptide of SEQ ID NO: 14 and identifying mutations in said polynucleotide or polypeptide from said human; and (b) correlating said mutations in said polynucleotide or polypeptide from said human with a autism or a propensity for autism.