Table 1

Summary of clinical and genetic findings
Family Patients RCC CNS HB Phaeo RA VHL disease type germline mutation localisation novel mutation Predicted protein modification SIFT analysis
A IP 15 - - 15 1 c.163 G > T exon 1 yes p.Glu55X NA
B IP - 48 - 48 1 c.232A > T exon 1 yes p.Asn78Tyr damaging
Brother - 45 - 45 1 c.232A > T exon 1 yes p.Asn78Tyr damaging
C IP 14 - 12 1 c.340 + 1 G > A intron 1-2 no p.Gly114AspfsX6 NA
Father 34, bilateral 34 - 38 1 c.340 + 1 G > A intron 1-2 no p.Gly114AspfsX6 NA
D IP 25 25 - - 1 c.555C > A exon 3 yes p.Tyr185X NA
E IP - 41 - 41 1 c.583C > T exon 3 no p.195GlnX NA

Numbers indicate patients’ age at detection of the corresponding VHL tumor. IP Index patient, RCC Clear cell renal cell carcinoma, CNS HB Central nervous system haemangioblastoma, Phaeo: phaeochromocytoma, RA Retinal angioma, NA Non-applicable.

Losonczy et al.

Losonczy et al. BMC Medical Genetics 2013 14:3   doi:10.1186/1471-2350-14-3

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