DNA-baed diagnoi of the von Hippel–Lindau yndrome

PURPOE: To evaluate the etiology of a unilateral hemangioblatoma noted in a male with a family hitory remarkable only for pine urgery in the proband’ father. METHOD: Genomic DNA wa iolated from peripheral blood of family member, and the three exon of the von Hippel–Lindau gene were examined for mutation by direct equencing. REULT: A three bae pair (bp) deletion in exon 1 of the VHL gene wa found in the father and both on. Thi in-frame deletion reult in the lo of a phenylalanine reidue from the von Hippel–Lindau protein product, at amino acid poition 76. CONCLUION: Genetic creening ha confirmed that von Hippel–Lindau yndrome i reponible for the hemangioblatoma in the proband. Magnetic reonance imaging can performed a a conequence of thee reult indicated pinal tumor preent in the father and tumor preent in the cerebellum of the proband’ ibling. A cloe, lifelong follow-up i warranted with thi dieae, thi cae demontrate the value of DNA teting in patient with ocular finding conitent with von Hippel–Lindau dieae in the abence of a recognized family hitory.