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GENOTYPE Number of carriers CPHbNETPheoRCCRef R200W/R200W115 0000A R200W/wt Parents of patients with CP 42000B R200W/V130L120010 C R200W/G144R R200W/L188V.

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Presentation on theme: "GENOTYPE Number of carriers CPHbNETPheoRCCRef R200W/R200W115 0000A R200W/wt Parents of patients with CP 42000B R200W/V130L120010 C R200W/G144R R200W/L188V."— Presentation transcript:

1 GENOTYPE Number of carriers CPHbNETPheoRCCRef R200W/R200W A R200W/wt Parents of patients with CP 42000B R200W/V130L C R200W/G144R R200W/L188V R200W/P192S R200W/P192T R161Q/wt D 250 NA 25 NA E R161Q/wt from Japan80 NA 13 F R200W+R161Q/wt Present study PHENOTYPE Table S1 Supplementary Tables and Figures

2 Table S2 cDNA mutation Amino acid change Patients with erytrocytosis References for heterozygous patients with VHL disease Genetic statusReferences c.28G>Tp.Glu10stopE10X/wtBento et al., 2014ND c.235 C>Tp.Arg79CysR79C/L188VBento et al., 2005ND c.241C>Gp.Pro81AlaG144R/P81ABento et al., 2014ND c.311G>Tp.Gly104ValG104V/wtCario et al., 2005ND c.370C>Ap.Thr124AlaT124A/L188VLorenzo et al., 2013ND c.376G>Ap.Asp126Asn D126N/S183L D126N/D126N Bond et al., 2011 Sarangi et al., 2014 ND c.376G>Tp.Asp126TyrD126Y/wtPastore et al., 2003aND c.388G>Cp.Val130LeuR200W/V130LPastore et al., 2003a -1 family with RCC (Shuin et al., 1994b; Zbar, Kishida et al., 1996; Olschwang et al., 1998) -1 family with erythrocytosis and pheo (Capodimonti et al., 2013) c.413C>Tp.Pro138LeuP138L/P138LLanikova et al., 2013ND c.430 G>Ap.Gly144Arg G144R/wt G144R/R200W G144R/P81A Randi et al., 2005 Bento et al., 2014 ND c.523A>Gp.Tyr175CysY175C/wtBento et al., family with pheo (Ruiz-Llorente et al. 2004) c.548C>Tp.Ser183LeuD126N/S183LBond et al., 2011ND c.562 C>Gp.Leu188Val R200W/L188V R79C/L188V T124A/L188V Pastore et al., 2003b Bento et al., 2005 Lorenzo et al., 2013 Typical VHL type 2C mutation (Ritter et al., 1996) c.571 C>Tp.His191AspH191D/H191DPastore et al., 2003bND c.574C>Ap.Pro192ThrP192T/R200WPercy et al., 2007ND c.586A>Gp.Lys196Glu K196E/K196EBento et al., 2013ND c.574 C>Tp.Pro192SerR200W/P192SPastore et al., 2003bND c.598 C>Tp.Arg200Trp see Table 1Ang et al., family with RCC described in this study (Zbar, Kishida et al., 1996; Olschwang et al., 1998)

3 Table S3 PatientGenotype RBC (million/mm3) Nf =4.2–5.2 Hb (g/dl) Nf=12-15 Ht (%) Nf =37–47 EPO (mU/ml) N= 5-25 III-2 R200W+R161Q/wt NA NP III-3 wt/wt IV-1 wt/wt NA 8.7 IV-2 R200W+R161Q/wt IV-3 R200W+R161Q/wt

4 Table S5 Table S4 Hydrogen bond wt R161Q wt R200W

5 Table S6 Genep-valueconfidence interval VHL82.09%[ ] EGLN30.28%[ ] CCND10.19%[ ] DBC10.62%[ ] INHBB0.68%[ ] NDRG10.26%[ ] SERPIN11.17%[ ] IRS20.18%[ ] SLC2A10.10%[ ] C1QL11.62%[ ] CLDN1100%NA

6 Table S7

7 type2 Type 2A Erythrocytosis Healthy/ von Hippel-Lindau Disease Erythrocytosis Type 1 type2 Type 2B Type 2C R200W L188VY98HR167Q C162F Genotype (VHL): Phenotype: Representative mutations: Figure S1

8 Figure S2 A B C R/W200 E134 D197 R120 Y175 L188 D190 D187 R167 R/Q161 Y156

9 Figure S3 Relative fold change of VHL mRNA expression


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