A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease

Xing Wu†,
Lanlan Chen†,
Yixin Zhang,
Hainan Xie,
Meirong Xue,
Yi Wang and
Houbin HuangEmail author View ORCID ID profile

†Contributed equally

BMC Medical Genetics201819:204

https://doi.org/10.1186/s12881-018-0716-4

Received: 6 March 2018
Accepted: 13 November 2018
Published: 26 November 2018

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Abstract

Background

Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with VHL disease.

Methods

Genomic DNA was extracted from peripheral blood from a Chinese family with VHL. A predicted pathogenic variant was identified by targeted exome capture technology and next-generation sequencing.

Results

A novel heterozygous mutation (c.349 T > A, p.W117R) was detected in affected family members. No mutation was detected in unaffected family members or in the 150 normal controls. The mutation segregated with the disease phenotype throughout three generations. Histopathological examination revealed the characteristics of hemangioblastoma.