jueves, 29 de noviembre de 2018

A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease | BMC Medical Genetics | Full Text

A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease | BMC Medical Genetics | Full Text



BMC Medical Genetics

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

Contributed equally
BMC Medical Genetics201819:204
  • Received: 6 March 2018
  • Accepted: 13 November 2018
  • Published: 
Open Peer Review reports

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.

Conclusions

A novel W117R was detected in the VHL gene that caused retinal hemangioblastomas in affected members of a Chinese family.

Keywords

  • VHL
  • Missense mutation
  • W117R

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