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

Arnald Garcia, Xavier Matias-Guiu, Rosa Cabezas, Ana Chico, Jaime Prat, Montserrat Baiget, Alberto De Leiva

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17 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)359-363
JournalClinical Endocrinology
Volume46
Issue number3
DOIs
Publication statusPublished - 1 Jan 1997

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