I just returned from a visit to Italy. While there I visited Alessandra Murgia and Dr. Opocher. Padua has considerable charm as a city that has crowds of people yet retains features of a medieval town. Padua would get my vote for an international VHL meeting.

With regard to the germline VHL mutation detection rate. First, Dr. Murgia has achieved a 100% germline VHL mutation rate (14/14 Italian VHL families). Dr. Murgia has been helped in her work by Dr. Catherine Stolle of the University of Pennsylvania.

Second, I recommended that DNA samples from VHL families for whom the mutations were not detected be sent to Dr. Stolle. This work was just completed and Stolle found germline mutations in 10 of the 11 families whose mutation had not previously been found. The sample in which Stolle did not find a germline VHL mutation detection is probably not VHL.

These results suggest that now a 100% germline VHL mutation rate is attainable by at least two labs: those in Philadelphia and Padua. Their methods are standard and published. Dr. Stolle is open to having other labs contact her for advice on mutation detection.

Catherine Stolle, Ph.D., FACMG

** previously at University of Pennsylvania
Molecular Genetics Laboratory
The Children's Hospital of Philadelphia
Abramson Research Center 1106F
34th & Civic Center Boulevard
Philadelphia, PA 19104
Phone: +1 215 590-8736, +1 800 669-2172
Fax: +1 215 590-2156
E-Mail: stolle@email.chop.edu

As printed in the VHL Family Forum 7:1, March 1999. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.

Updated July 2002.