Rare Diseases Symptoms Automatic Extraction

Higher prevalence of novel mutations in VHL gene in Chinese Von Hippel-Lindau disease patients.

[von hippel-lindau disease]

To observe the clinical and molecular characteristics in Chinese Von Hippel-Lindau (VHL) disease patients.Using polymerase chain reaction (PCR)-direct sequencing and universal primer quantitative fluorescent multiplex-PCR, we examined mutations in VHL gene in 19 VHL disease families recruited from the Department of Urology, Peking University First Hospital in the period from 2009 to 2012.Of the 19 VHL disease families, VHL disease type I was identified in 14 families, type IIA in 1 family, and type IIB in 4 families. Mutation detection found missense point mutations in 7 families, nonsense point mutations in 3 families, small indels in 6 families, and large deletions in 3 families. Novel mutations were detected in 9 families (47.4%), in which 6 had no family history; previously reported mutations were found in 10 families, in which 3 had no family history.The prevalence of novel mutations without family history was higher in this group of patients, presumably demonstrating the higher prevalence of de novo mutations in VHL gene in Chinese VHL disease patients.

Diseases presenting "previously reported mutations" symptom

  • dentinogenesis imperfecta
  • omenn syndrome
  • papillon-lefèvre syndrome
  • phenylketonuria
  • triple a syndrome
  • von hippel-lindau disease

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