Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
Lenglet M., Robriquet F., Schwarz K., Camps C., Couturier A., Hoogewijs D., Buffet A., Knight SJL., Gad S., Couvé S., Chesnel F., Pacault M., Lindenbaum P., Job S., Dumont S., Besnard T., Cornec M., Dreau H., Pentony M., Kvikstad E., Deveaux S., Burnichon N., Ferlicot S., Vilaine M., Mazzella J-M., Airaud F., Garrec C., Heidet L., Irtan S., Mantadakis E., Bouchireb K., Debatin K-M., Redon R., Bezieau S., Bressac-de Paillerets B., Teh BT., Girodon F., Randi M-L., Putti MC., Bours V., Van Wijk R., Göthert JR., Kattamis A., Janin N., Bento C., Taylor JC., Arlot-Bonnemains Y., Richard S., Gimenez-Roqueplo A-P., Cario H., Gardie B.
Key Points Mutations in a VHL cryptic exon may be found in patients with familial erythrocytosis or VHL disease. Synonymous mutations in VHL exon 2 may induce exon skipping and cause familial erythrocytosis or VHL disease.