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| CLUSTERING OF FEATURES OF VONHIPPEL-LINDAU SYNDROME - EVIDENCE FOR A COMPLEX GENETIC-LOCUS |
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| Author(s): NEUMANN HPH, WIESTLER OD |
| Source: LANCET Volume: 337 Issue: 8749 Pages: 1052-1054 Published: MAY 4 1991 |
| Times Cited: 152 References: 23 |
| Abstract: von Hippel-Lindau syndrome (HLS), an autosomal-dominant inherited disease, was studied in 92 affected subjects from 29 kindreds. In an initial survey to identify HLS gene carriers, all patients treated at the University of Freiburg for angiomatosis retinae (22), haemangioblastoma of the central nervous system (CNS) (63), and phaeochromocytoma (54) were examined as potential HLS gene carriers. HLS was diagnosed in 86% of the patients with angiomatosis retinae, 19% of the patients with haemangioblastoma of the CNS, and 19% of the patients with phaeochromocytoma. Based on these and on an additional 49 newly diagnosed cases (24 by clinical examination and 25 by pedigree analysis), the calculated prevalence of the disease in the district of Freiburg, Germany, with a population of 1.909 million is 1/38 951. There was a striking tendency for familial clustering of HLS features in affected kindreds. Both angiomatosis retinae and haemangioblastoma of the CNS occurred in most families, whereas renal lesions and/or pancreatic cysts and phaeochromatocytoma were mutually exclusive. This finding suggests that HLS is caused by different mutations within a complex genetic locus, or additional genetic lesions, which cooperate with the HLS gene on chromosome 3p. Te data point to a linear sequence of features as follows: phaeochromocytoma, angiomatosis retinae, haemangioblastoma of the CNS, renal lesions, pancreatic cysts, and epididymal cystadenoma. |
| Document Type: Article |
| Language: English |
| Reprint Address: NEUMANN, HPH (reprint author), UNIV FREIBURG, DEPT MED, W-7800 FREIBURG, GERMANY |
Addresses:
1. UNIV ZURICH, DEPT PATHOL, CH-8006 ZURICH, SWITZERLAND |
| Publisher: LANCET LTD, 42 BEDFORD SQUARE, LONDON, ENGLAND WC1B 3SL |
| Subject Category: Medicine, General & Internal |
| IDS Number: FK204 |
| ISSN: 0140-6736 |
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