Molecular diagnosis of von Hippel‐Lindau disease in a kindred with a predominance of familial phaeochromocytoma

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Abstract
OBJECTIVE To study the presence of germline mutations in the von Hippel‐Lindau gene (vhl ) in a kindred with a predominance of familial phaeochromocytoma in order to confirm the diagnosis of von Hippel‐Lindau disease (VHLD) as well as to identify asymptomatic members.DESIGN DNA extracted from peripheral blood was amplified by the polymerase chain reaction using oligonucleotide primers corresponding to exon 3 of the vhl gene. Specific mutations in codon 238 were screened by restriction endonuclease digestion of PCR products with Msp I. The results were confirmed by DNA sequence analysis.PATIENTS Two generations of a family consisting of 15 individuals were studied.RESULTS A germline missense point mutation at codon 238 of the vhl gene (CGG → TGG; Arg → Trp) was detected in all patients with phaeochromocytoma and in only one of the asymptomatic family members.CONCLUSION Mutational analysis of the vhl gene in patients with familial phaeochromocytoma may permit specific diagnosis of von Hippel‐Lindau disease, and is a good method for the identification of asymptomatic individuals at risk of von Hippel‐Lindau disease.

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