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Von Hippel-Lindau (VHL) disease: distinct phenotypes suggest more than one mutant allele at the VHL locus |
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| Authors: | Glenn Gladys M Daniel Lambert N Choyke Peter Linehan W Marston Oldfield Edward Gorin Michael B Hosoe Shigeto Latif Farida Weiss Gary Walther McClellan Lerman Michael I Zbar Berton |
| Institution: | (1) Laboratory of Immunobiology, National Cancer Institute-Frederick Cancer Research and Development Center, 21701 Frederick, MD, USA;(2) Diagnostic Radiology Department, Clinical Center, National Institutes of Health, 20892 Bethesda, MD, USA;(3) Surgery Branch, National Cancer Institute, 20892 Bethesda, MD, USA;(4) Surgical Neurology Branch, National Institute of Neurological Diseases and Stroke, 20892 Bethesda, MD, USA;(5) Department of Ophthalmology, The Eye and Ear Institute of Pittsburgh, University of Pittsburgh School of Medicine, 15213 Pittsburgh, PA, USA;(6) Laboratory of Immunobiology, National Cancer Institute-Frederick Cancer Research and Development Center, Building 560, Room 12-71, 21701 Frederick, MD, USA |
| Abstract: | Summary As part of an attempt to locate the von Hippel-Lindau locus (VHL) on chromosome 3, we evaluated 41 families with von Hippel-Lindau disease from the United States and Canada. One large family was identified whose disease phenotype was distinct from typical VHL. The most common disease manifestation was pheochromocytoma occuring in 57% (27/47) of affected family members. Few (4/47) affected family members had symptomatic spinal or cerebellar hemangioblastomas; no affected family member had renal cell carcinoma (0/47) or pancreatic cysts (0/24). Previously, genetic analysis demonstrated that the disease manifestations in this family were linked to RAF1 and D3S18, markers shown to be linked to typical VHL. These results suggest that there are mutant alleles at the VHL locus associated with distinct tissue specificities. |
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