Table 4 List of genes/loci carrying candidate AIS variants

From: Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways

Solved/near-solves cases

Known AIS genes: FBN1, FBN2, HSPG2, KIF7

AD syndromic genes/loci: 22q11.2, ABCC9, AFG2A, ARID1B, DPP6, FAM111B, GNAI1, IFIH1, MFN2, NSD2, SPRED1, TNPO3

Cases with strong candidate

AR syndromic genes: ALMS1, ALPK3, ATP6V0A2, ATP7B, B4GALNT1, CPLANE1, CRPPA, DEGS1, DST, EIF2B1, GAN, GCDH, GOSR2, IDUA, KIAA0586, NSMCE2, OTUD6B, PCNT, PIGS, POR, RBM8A, RMP64, RNU4ATAC, SDCCAG8, SERAC1, TMCO1

Cases with moderate candidate

Known AIS genes: COL11A2, FBN2, HSPG2

AD syndromic genes: ACTN2, BPTF, COL5A1, COL5A2, COL6A3, DNMT3A, FLNB, MED13L, MYBPC1, MYH2, NALCN, NSD2, P4HB, RYR1, SETD5, SMAD3, SMARCA4, TCF12, TPM3, TRIO

AR syndromic genes: ARMC9, ATAD1, CFTR, CRTAP, CSGALNACT1, DOK7, EIF2B4, GNPTG, HERC1, LAMA2, LAMB2, MEGF10, MVK, POLE, RBM8A, ROR2, RPGRIP1L, SACS, SCN4A, SERPINH1, SPRED2, SPTBN4, SYNE1, TGDS, TMEM94, TONSL, TTC21B, VMA21

AIS-associated genes: CYP7B1, ECHS1, FGFRL1, FREM1, FRYL, MGAT5, MYO7A, MYOZ2, NEK8, NFE2L1, OSBPL9, PAH, PIGV, SULT2A1, YTHDC2, ZFYVE26, ABCA4, ACSF3, ANO5, ATP1A3, BLM, CUL7

AIS-unassociated genes: ABL2, GRIA2, GSX1, MTG2, SARDH

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