Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

• Published in: Cell Vol. 49; no. 5; p. 589
• Main Authors: Seizinger, B R, Rouleau, G A, Ozelius, L J, Lane, A H, Faryniarz, A G, Chao, M V, Huson, S, Korf, B R, Parry, D M, Pericak-Vance, M A
• Format: Journal Article
• Language: English
• Published: United States 05-06-1987
• Subjects: Chromosome Mapping; Chromosomes, Human, Pair 17; Genes; Genetic Linkage; Genetic Markers; Humans; Neurofibromatosis 1 - genetics; Pedigree; Polymorphism, Restriction Fragment Length; Receptors, Cell Surface - genetics; Receptors, Nerve Growth Factor
• ISSN: 0092-8674
• DOI: 10.1016/0092-8674(87)90534-4

von Recklinghausen neurofibromatosis (VRNF) is one of the most common inherited disorders affecting the human nervous system. VRNF is transmitted as an autosomal dominant defect with high penetrance but variable expressivity. The disorder is characterized clinically by hyperpigmented patches of skin (café au lait macules, axillary freckles) and by multiple tumors of peripheral nerve, spinal nerve roots, and brain (neurofibromas, optic gliomas). These tumors can cause disfigurement, paralysis, blindness, and death. We have determined the chromosomal location of the VRNF gene by genetic linkage analysis using DNA markers. The VRNF gene is genetically linked to the locus encoding nerve growth factor receptor, located on the long arm of chromosome 17 in the region 17q12---17q22. However, crossovers with the VRNF locus suggest that a mutation in the nerve growth factor receptor gene itself is unlikely to be the fundamental defect responsible for the VRNF phenotype.