Mutation Analysis And Clinical Of Three Chinese Families With Von Hippel-Lindau Disease

Objective To detect the genetic mutations of vhl gene of three families who were diagnosed in clinical, and screen the carriers for clinical guiding treatment.Methods The vhl gene was screened for mutation using a direct DNA sequencing analysis for 31 members from three families. The genetic mutations carriers were required to undergo further clinical examination, surveillance and treatment.Results The genetic testing results based on positive three probands.5 members of family 1 have positive genes,1 member in family 2,7 members in family 3. The position of three VHL families genes mutations sites is separately on c.330C>A in exonl, 488delC in exon3 and c.233G>A in exonl.In DNA sequencing analysis, We found four potential carriers (1?3,3?1,3?4,3IV3),and combined with clinical examination, three(1?3,3?1,3?3) of them had disease.1?3 is diagnosed with multi-cysts on kidney and pancreas,3?1 is diagnosed with pancreatic multi-cysts.3?4 is diagnosed with retinal hemangioblastoma. We have guided the member 3?3 for eye surgery.3?3 is not found with abnormal symptoms because of her young age.And all of the gene carriers should have the follow-up visit.Conclusion Genetic testing can diagnosed VHL syndrome early.To improve patients' treatment, prolong survival and improve the quality of life,the patients with vhl gene mutations need follow-up closely.