NEUROPSYCHIATRIC DISORDER-ASSOCIATED MUTATIONS AND USES THEREOF

摘要

Provided herein are methods and compositions for identifying subjects as having an elevated risk of developing or having a neuropsychiatric disorder. These subjects are identified based on the presence of one or more mutations.

主权项

1. A method, comprising:
(a) analyzing genomic DNA from a subject for the presence of a mutation within or near
(i) a region having chromosomal boundaries/co-ordinates provided in Table 1 or 2, columns 5 and 6 of a gene selected from: AHNAK, ATXN1, C5orf13, CAMK4, CAPN14, CHRM1, DUSP8, EPB41L4A, FAM193A, FER, FNDC3B, GALNT14, HAUS3, KIAA0232, KIAA1530, KRTAP5-8, LRRTM1, MAN2A1, MFSD10, MOB2, MXD4, NOP14, PGCP, PHACTR1, PJA2, PLD1, SLC22A6, SLC22A8, SORCS2, STX5, TADA2B, TBC1D14, TMEM212, TMEM232, TNFSF10, TNIP2, TSPYL5, WDR36, WDR74, or ZFYVE28; or
(ii) a region having chromosomal boundaries provided in Table 2A columns 4 (human) and 6 (canine) of a gene selected from: ADD1, AHNAK, ASRGL1, ATL3, ATXN1, BLOC1S4, C4orf10, C5orf13, CAMK4, CAPN14, CCDC96, CDH2, CHRM1, CNO, CPQ, CTNNA2, DSC3, DUSP8, EPB41L4A, FAM129A, FAM193A, FER, FGFR3, FNDC3B, GALNT14, GHSR, GRPEL1, HAUS3, HCCA2, HRASLS5, INCENP, IVNS1ABP, KIAA0232, KIAA1530, KRTAP5-11, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-7, KRTAP5-8, KRTAP5-9, LETM1, LGALS12, LRRTM1, MAEA, MAN2A1, MFSD10, MOB2, MRFAP1, MXD4, NAT8L, NELFA, 0, NOP14, NREP, 0, PGCP, PHACTR1, PJA2, PLA2G16, PLD1, POLN, PPP2R2C, RNF2, RNF4, SCARNA22, SCGB1A1, SCGB1D1, SCGB1D2, SCGB2A1, SH3BP2, SLBP, SLC22A6, SLC22A8, SLC25A46, SLC3A2, SNHG1, SNORD22, SNORD30, SNORD31, SORCS2, STARD4, STX5, SWT1, TACC3, TADA2B, TBC1D14, TBC1D7, TMEM129, TMEM212, TMEM232, TNFSF10, TNIP2, TRMT1L, TSLP, TSPYL5, UVSSA, WDR36, WDR74, WHSC1, WHSC2, ZFYVE28; and (b) identifying a subject having the mutation as a subject at elevated risk of developing or having a neuropsychiatric disorder.