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• W2104103676 abstract "<h3>BACKGROUND</h3> Germline mutations of the <i>VHL</i> gene cause von Hippel-Lindau syndrome (VHL). In southern Germany, a specific mutation in this gene, c.505 T>C, is one of the most frequent alterations owing to a founder effect. <h3>METHODS</h3> This study was conducted to evaluate morbidity, specific clinical risk profile, and mortality among a series of <i>VHL</i> c.505 T/C mutation carriers. A total of 125 eligible subjects carrying<i>VHL</i> c.505 T/C underwent ophthalmoscopy and gadolinium enhanced magnetic resonance imaging of the brain, the spinal cord, and the abdomen. Age related penetrance, morbidity, and mortality were assessed. <h3>RESULTS</h3> Frequently observed lesions were phaeochromocytoma (47%), retinal angiomas (36%), haemangioblastoma of the spine (36%), and haemangioblastoma of the brain (16%). Four patients developed renal cell carcinoma. VHL was symptomatic in 47% of subjects; 30% were asymptomatic despite the presence of at least one VHL related tumour and 23% of the carriers had no detectable VHL lesion. Of the 19 patients who had died (15%), 10 died of symptomatic VHL lesions. Overall penetrance by cumulative incidence functions is estimated at 48% by 35 years and 88% by 70 years. In contrast to the only existing published report based on patients with presumably unselected <i>VHL</i>germline mutations, the mortality rate for c.505 T/C mutation carriers is comparable to that of the general population of Germany. <h3>CONCLUSIONS</h3> Our results are an important example that a specific genotype, at least in the case of<i>VHL</i> c.505 T/C, can favourably impact on mortality despite a high age related penetrance. Our study also indirectly provides objective data which might be useful to the life and health insurance industry; it would appear that c.505 T>C mutation positive subjects have similar disease specific mortality to that of the general population owing to a combination of phenotype and timely detection of mutation carrier status followed by aggressive clinical screening and, if necessary, treatment." @default.
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• W2104103676 date "2001-08-01" @default.
• W2104103676 modified "2023-09-27" @default.
• W2104103676 title "VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality" @default.
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• W2104103676 doi "https://doi.org/10.1136/jmg.38.8.508" @default.
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