The pheochromocytoma type of Von Hippel-Lindau disease

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:133548

Neumann, H P.H.; Berger, D P; Zauner, I ^[1]

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1. Univ. of Freiburg (Germany); and others

Recently (1) we have clinically identified large number of VHL families predominantly developing pheochromocytomas (pheo), retinal angiomas and CNS hemangioblastomas, but not renal cysts, renal carcinomas and pancreatic cysts. We suggested a model of a complex genetic locus for VHL on chromosome 3p25-26 (2) with distinct and different mutations underlying pheo- and non-pheo-associated-types of VHL. We applied primer-specified restriction map modification to detect a point mutation at nt 505 in 11 pheo-type VHL families and 10 non-pheo-VHL families. We detected a missense mutation at nt 505 in all pheo-families but not in the non-pheo-VHL families. The results are consistent with our model that different mutations within the VHL gene are responsible for the expression of distinct phenotypes. This is of enormous clinical impact, since pheo-type VHL families apparently run a very low risk for developing renal carcinomas.

• OSTI ID: 133548
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MODELS
CHROMOSOMAL ABERRATIONS
GENE MUTATIONS
GENES
GENETIC MAPPING
HUMAN CHROMOSOME 3
NEOPLASMS
PATIENTS
PHENOTYPE