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Table 1 Genotypes and phenotypes in 2 Chinese Von Hippel-Lindau disease pedigrees

From: VHL Ser65 mutations enhance HIF2α signaling and promote epithelial-mesenchymal transition of renal cancer cells

Patient

Family

History

Exon

Nucleotide Change and

Consequence

Clinical

Type

Age at Diagnosis (y)

CNSH

RH

RCC

PCT

PHE

Family 1

 + 

1

c.193 T > C (p.Ser65Pro)

1

     

 III-1

  

Heterozygous

 

16

–

29

29

–

 II-1

  

Heterozygous

 

25

–

–

–

–

Family 2

 + 

1

c.194C > G (p.Ser65Trp)

1

     

 III-4

  

Heterozygous

 

-

–

33

33

–

 II-1*

  

UN

 

UN

–

–

–

–

 III-6

  

Heterozygous

 

32

–

–

–

–

 IV-6

  

Heterozygous

 

22

–

23

23

–

  1. *Death before enrollment, age of death is 63y
  2. CNSH central nervous system hemangioblastoma, RH retinal hemangioblastoma; RCC renal cell carcinoma, PCT pancreatic cysts or tumors, PHE pheochromocytoma, UN unknown
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Cell & Bioscience

ISSN: 2045-3701

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