Association of rare recurrent genetic variations to attention-deficit, hyperactivity disorder (adhd) and methods of use thereof for the diagnosis and treatment of the same

Abstract

Compositions and methods for the detection and treatment of ADHD are provided.

1 - 29 . (canceled) 
     
     
         30 . A method for detecting an increased risk for developing attention deficit hyperactivity disorder (ADHD) in a subject, the method comprising determining whether a nucleic acid sample obtained from said subject contains at least one ADHD associated copy number variation (CNV), wherein the at least one ADHD associated CNV is selected from the group consisting of:
 (a) a deletion in GRM5 gene sequences between rs604179 and rs669724 in the physical chromosome range chr11:88269449-88351661 and rs694665;   (b) a deletion in GRM8 gene sequences between rs7794734 and rs2237790 in the physical chromosome range chr7:126525124-126536202, and rs6975798;   (c) a deletion in GRM7 gene sequences between rs1516302 and rs6784317 in the physical chromosome range chr3:7183953-7197236, and rs10866078;   (d) a deletion in SGTB/NLN gene sequences between rs10073281 and rs972501 in the physical chromosome range chr5:65027976-65046520, and rs17590975;   (e) a deletion in USP24 gene sequences between rs7527177 and rs4333889 in the physical chromosome range chr1:56053497-56064495, and rs4512692;   (f) a deletion in SLC7A10 gene sequences between rs748680 and rs4530278 in the physical chromosome range chr19:38427720-38444834, and rs7256230;   (g) a duplication in GRM1 gene sequences between rs12200797 and rs362949 in the physical chromosome range chr6:146657076-146694047, and rs1009085;   (h) a duplication in NEGR1 gene sequences between rs12033161 and rs2821257 in the physical chromosome range chr1:72317292-72328395, and rs2821267;   (i) a duplication in DPP6 gene sequences between rs4389846 and rs12703329 in the physical chromosome range chr7:153495598-153564827, and rs12703323;   (j) a duplication in CNTN4 gene sequences between rs10510218 and rs7625240 in the physical chromosome range chr3:1844168-1859889, and rs17044355; and   (k) a duplication in LARP7 gene sequences between rs12054518 and rs7690429 in the physical chromosome range chr4: 113772340-113788584, and rs6533635;   wherein said chromosomal ranges in each of (a)-(k) are provided in build 36/hg18; and   wherein detection of at least one of said CNVs indicates said subject has an increased risk for developing ADHD.   
     
     
         31 . The method of  claim 30 , wherein the determining step is performed using a process selected from the group consisting of detection of specific hybridization, measurement of allele size, restriction fragment length polymorphism analysis, allele-specific hybridization analysis, single base primer extension reaction, and sequencing of an amplified polynucleotide. 
     
     
         32 . The method of  claim 30 , wherein nucleic acids comprising said CNV are obtained from an isolated cell of a human subject.