Van Der Woude Syndrome 1, Modifier Of

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Retrieved

2019-09-22

Source

Omim

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Genes

IRF6, GRHL3, TNF, IL6, IL1B, TLR4, IL10, ACTB, IL17A, IFNG, CXCL8, COX2, HMGB1, NHLH1, PPARG, PTGS2, STAT3, HSPA4, MTCO2P12, AKT1, CYBB, AIF1, AHR, DCDC2, NOX4, AGO2, SIRT1, TNFSF13, UMOD, TRPC3

IRF6, GRHL3, TNF, IL6, IL1B, TLR4, IL10, ACTB, IL17A, IFNG, CXCL8, COX2, HMGB1, NHLH1, PPARG, PTGS2, STAT3, HSPA4, MTCO2P12, AKT1, CYBB, AIF1, AHR, DCDC2, NOX4, AGO2, SIRT1, TNFSF13, UMOD, TRPC3, TP53, ETV6, TH, TGFB2, TFDP1, TFAP2A, CNTN2, SYT1, ARG1, SLC22A4, CCL21, CCL5, RIPK4, GORASP1, ROCK1, WNK1, THRIL, NCF1, MIR211, MIR206, MIR195, MIR183, MIR17, MIR15B, MIR132, MIR122, MALAT1, CFAP57, TICAM1, TRIM69, CPO, TIRAP, NLRP3, WDR26, WNK2, RORA, REN, F3, DNTT, CCK, IRF3, IRF2, IDO1, CDH2, CNR2, CXCR1, IL7R, CYP2E1, DRD2, RELA, IFNA13, IFNA1, HSP90AA1, EPHB2, FOXA1, ERN1, CXCL2, GPT, GLI2, KISS1, LAMB2, MAP3K3, MST1, NECTIN1, PVR, CCND1, MAPK1, PRKAB1, PRKAA2, PRKAA1, BCL2, AP2A1, PIK3CG, PIK3CD, PIK3CB, PIK3CA, NRF1, NME2, NME1, CASP3, NFATC1, CAV1, PKM

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Mapping

Van der Woude syndrome-1 (VWS1; 119300), which maps to 1q32, is characterized by pits and/or sinuses of the lower lip, cleft lip/palate (CL/P), cleft palate (CP), bifid uvula, and hypodontia. The expression of VWS1, which has incomplete penetrance, is highly variable. Both the occurrence of CL/P and CP within the same kindred and a recurrence risk of less than 40% for CP among descendants with VWS suggested that the development of clefts in this syndrome is influenced by modifying genes at other loci. To test this hypothesis, Sertie et al. (1999) conducted linkage analysis in a large Brazilian kindred with VWS, considering as affected the individuals with CP, regardless of whether it was associated with other signs of VWS. The results suggested that a gene at chromosome 17p11.2-p11.1, together with the causative VWS1 gene at chromosome 1q32, enhances the probability of CP in an individual carrying the 2 at-risk genes. The authors stated that this may represent one of the first examples of a gene, mapped through linkage analysis, that modifies the expression of a major gene.

Wong et al. (2001) excluded this locus in 5 Finnish families with VWS. Three of these families were linked to 1q32-q41, and 2 were not.