Von-Hipple Lindau syndrome with family history: a case report and seventeen years follow-up study.

ABSTRACT:

Background

Von-Hipple Lindau syndrome is an uncommon autosomal dominant disorder. 17 years ago we diagnosed a young woman with VHL syndrome validated by Sanger sequencing, her family members were genetically tested as well, and 187 healthy people were randomly selected for VHL genetic testing as controls. We analyze the clinical and genetic characteristics of VHL syndrome in a Chinese lineage and with 17-year follow-up.

Case presentation

A woman was finally diagnosed with VHL syndrome due to the detection of a missense mutation c.353T > C in exon 2 of the short arm of chromosome 3, which resulted in a leucine substitution at amino acid 118 of the encoded protein by a proline, which may be thought the main cause of the disease. The same mutation was observed in two other fami

SUBMITTER: Fan X 

PROVIDER: S-EPMC11002081 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature