Germline mutation in the von Hippel-Lindau gene in Kuwait: a clinical and molecular study.

Objectives: We aimed to investigate germline mutation in another extended von Hippel-Lindau (VHL) family in Kuwait with Arabian and Persian genetic admixture.

Materials And Method: Polymerase chain reaction (PCR) followed by single-strand conformation polymorphism (SSCP) and direct sequencing of the PCR amplicons, that showed clear band shift, were used to screen the VHL gene in the index patient, 20 members of her family and 55 healthy controls of matching ethnicity.

Result: The clinical history of all patients revealed multiple hemangioblastomas in various organs without pheochromocytomas.