Von Hippel-Lindau disease type 2 in a Chinese family with a VHL p.W88X truncation.

[von hippel-lindau disease]

Von Hippel-Lindau (VHL ) disease is an autosomal dominant syndrome caused by germline mutations in the synonymous VHL gene encoding a tumor suppressor . Affected individuals are susceptible to various benign and malignant tumors . Based on the phenotypes , VHL disease is classified as type 1 and type 2 . Here , we describe a Chinese family diagnosed as VHL disease type 2 , with different metabolic status of tumors on FDG PET-CT . Genetic analysis revealed a germline c .264 G Â >Â A point mutation , resulting in premature termination at codon 88 (p .W 88 X ). This pedigree represents a rare link between p .W 88 X nonsense mutation (genotype ) and VHL disease type 2 (phenotype ), which has not been previously described . This is also the first nonsense mutation to manifest as VHL disease type 2 in ethnic Chinese . We also reviewed the literature and provided an outline of mutations associated with VHL disease in China .

Diseases
Validation

Diseases presenting "malignant tumors" symptom

adrenal incidentaloma

cholangiocarcinoma

coats disease

cowden syndrome

cushing syndrome

dedifferentiated liposarcoma

dentinogenesis imperfecta

esophageal carcinoma

focal myositis

junctional epidermolysis bullosa

liposarcoma

pleomorphic liposarcoma

von hippel-lindau disease

You can validate or delete this automatically detected symptom