Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene
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...
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| Veröffentlicht in: | Cell 1987-06, Vol.49 (5), p.589-594 |
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| creator | 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. Collins, F.S. Hobbs, W.J. Falcone, B.G. Iannazzi, J.A. Roy, J.C. St George-Hyslop, P.H. Tanzi, R.E. Bothwell, M.A. Upadhyaya, M. Harper, P. Goldstein, A.E. Hoover, D.L. Bader, J.L. Spence, M.A. Mulvihill, J.J. Aylsworth, A.S. Vance, J.M. Rossenwasser, G.O.D. Gaskell, P.C. Roses, A.D. Martuza, R.L. Breakefield, X.O. Gusella, J.F. |
| description | 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. |
| doi_str_mv | 10.1016/0092-8674(87)90534-4 |
| format | Article |
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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.</description><identifier>ISSN: 0092-8674</identifier><identifier>EISSN: 1097-4172</identifier><identifier>DOI: 10.1016/0092-8674(87)90534-4</identifier><identifier>PMID: 2884037</identifier><identifier>CODEN: CELLB5</identifier><language>eng</language><publisher>Cambridge, MA: Elsevier Inc</publisher><subject>Biological and medical sciences ; Chromosome Mapping ; Chromosomes, Human, Pair 17 ; Fundamental and applied biological sciences. Psychology ; Genes ; Genes. Genome ; Genetic Linkage ; Genetic Markers ; Humans ; Molecular and cellular biology ; Molecular genetics ; Neurofibromatosis 1 - genetics ; Pedigree ; Polymorphism, Restriction Fragment Length ; Receptors, Cell Surface - genetics ; Receptors, Nerve Growth Factor</subject><ispartof>Cell, 1987-06, Vol.49 (5), p.589-594</ispartof><rights>1987</rights><rights>1988 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3784-ca6f24fb64bc4397cdea06220704366ca5c69a2352d7871ff10877a58143e8df3</citedby><cites>FETCH-LOGICAL-c3784-ca6f24fb64bc4397cdea06220704366ca5c69a2352d7871ff10877a58143e8df3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/0092867487905344$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=7472987$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/2884037$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Seizinger, B.R.</creatorcontrib><creatorcontrib>Rouleau, G.A.</creatorcontrib><creatorcontrib>Ozelius, L.J.</creatorcontrib><creatorcontrib>Lane, A.H.</creatorcontrib><creatorcontrib>Faryniarz, A.G.</creatorcontrib><creatorcontrib>Chao, M.V.</creatorcontrib><creatorcontrib>Huson, S.</creatorcontrib><creatorcontrib>Korf, B.R.</creatorcontrib><creatorcontrib>Parry, D.M.</creatorcontrib><creatorcontrib>Pericak-Vance, M.A.</creatorcontrib><creatorcontrib>Collins, F.S.</creatorcontrib><creatorcontrib>Hobbs, W.J.</creatorcontrib><creatorcontrib>Falcone, B.G.</creatorcontrib><creatorcontrib>Iannazzi, J.A.</creatorcontrib><creatorcontrib>Roy, J.C.</creatorcontrib><creatorcontrib>St George-Hyslop, P.H.</creatorcontrib><creatorcontrib>Tanzi, R.E.</creatorcontrib><creatorcontrib>Bothwell, M.A.</creatorcontrib><creatorcontrib>Upadhyaya, M.</creatorcontrib><creatorcontrib>Harper, P.</creatorcontrib><creatorcontrib>Goldstein, A.E.</creatorcontrib><creatorcontrib>Hoover, D.L.</creatorcontrib><creatorcontrib>Bader, J.L.</creatorcontrib><creatorcontrib>Spence, M.A.</creatorcontrib><creatorcontrib>Mulvihill, J.J.</creatorcontrib><creatorcontrib>Aylsworth, A.S.</creatorcontrib><creatorcontrib>Vance, J.M.</creatorcontrib><creatorcontrib>Rossenwasser, G.O.D.</creatorcontrib><creatorcontrib>Gaskell, P.C.</creatorcontrib><creatorcontrib>Roses, A.D.</creatorcontrib><creatorcontrib>Martuza, R.L.</creatorcontrib><creatorcontrib>Breakefield, X.O.</creatorcontrib><creatorcontrib>Gusella, J.F.</creatorcontrib><title>Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene</title><title>Cell</title><addtitle>Cell</addtitle><description>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.</description><subject>Biological and medical sciences</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 17</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genes</subject><subject>Genes. Genome</subject><subject>Genetic Linkage</subject><subject>Genetic Markers</subject><subject>Humans</subject><subject>Molecular and cellular biology</subject><subject>Molecular genetics</subject><subject>Neurofibromatosis 1 - genetics</subject><subject>Pedigree</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Receptors, Cell Surface - genetics</subject><subject>Receptors, Nerve Growth Factor</subject><issn>0092-8674</issn><issn>1097-4172</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1987</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkc1q3DAUhUVJSSZp36ABLUJJFk71Z195UyghfxAIhHatauSrGTUeayrZU_r2sTPDLJOVhM53D-K7hHzh7JIzXn1jrBaFrkCda7ioWSlVoT6QGWc1FIqDOCCzPXJEjnP-wxjTZVkekkOhtWISZuT3LXbYB0fb0D3bBdLo6SZ29And8_i0WNohY0c7HFL0YZ7iyvYxh0z7SPsljkHaIF2k-K9fUm9dHxNN6HA9XRZj9yfy0ds24-fdeUJ-3Vz_vLorHh5v769-PBROglaFs5UXys8rNXdK1uAatKwSggFTsqqcLV1VWyFL0YAG7j1nGsCWmiuJuvHyhHzd9q5T_Dtg7s0qZIdtazuMQzYApdBM6HdBrrSshZxAtQVdijkn9Gadwsqm_4YzM23ATHrNpNdoMK8bMGocO931D_MVNvuhnfIxP9vlNjvb-mQ7F_IeAwWi1hP2fYvhKG0TMJnsAnYOmzD67U0Tw9v_eAEZZ6I4</recordid><startdate>19870605</startdate><enddate>19870605</enddate><creator>Seizinger, B.R.</creator><creator>Rouleau, G.A.</creator><creator>Ozelius, L.J.</creator><creator>Lane, A.H.</creator><creator>Faryniarz, A.G.</creator><creator>Chao, M.V.</creator><creator>Huson, S.</creator><creator>Korf, B.R.</creator><creator>Parry, D.M.</creator><creator>Pericak-Vance, M.A.</creator><creator>Collins, F.S.</creator><creator>Hobbs, W.J.</creator><creator>Falcone, B.G.</creator><creator>Iannazzi, J.A.</creator><creator>Roy, J.C.</creator><creator>St George-Hyslop, P.H.</creator><creator>Tanzi, R.E.</creator><creator>Bothwell, M.A.</creator><creator>Upadhyaya, M.</creator><creator>Harper, P.</creator><creator>Goldstein, A.E.</creator><creator>Hoover, D.L.</creator><creator>Bader, J.L.</creator><creator>Spence, M.A.</creator><creator>Mulvihill, J.J.</creator><creator>Aylsworth, A.S.</creator><creator>Vance, J.M.</creator><creator>Rossenwasser, G.O.D.</creator><creator>Gaskell, P.C.</creator><creator>Roses, A.D.</creator><creator>Martuza, R.L.</creator><creator>Breakefield, X.O.</creator><creator>Gusella, J.F.</creator><general>Elsevier Inc</general><general>Cell Press</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TM</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>19870605</creationdate><title>Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene</title><author>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. ; Collins, F.S. ; Hobbs, W.J. ; Falcone, B.G. ; Iannazzi, J.A. ; Roy, J.C. ; St George-Hyslop, P.H. ; Tanzi, R.E. ; Bothwell, M.A. ; Upadhyaya, M. ; Harper, P. ; Goldstein, A.E. ; Hoover, D.L. ; Bader, J.L. ; Spence, M.A. ; Mulvihill, J.J. ; Aylsworth, A.S. ; Vance, J.M. ; Rossenwasser, G.O.D. ; Gaskell, P.C. ; Roses, A.D. ; Martuza, R.L. ; Breakefield, X.O. ; Gusella, J.F.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3784-ca6f24fb64bc4397cdea06220704366ca5c69a2352d7871ff10877a58143e8df3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1987</creationdate><topic>Biological and medical sciences</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 17</topic><topic>Fundamental and applied biological sciences. 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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.</abstract><cop>Cambridge, MA</cop><pub>Elsevier Inc</pub><pmid>2884037</pmid><doi>10.1016/0092-8674(87)90534-4</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Cell, 1987-06, Vol.49 (5), p.589-594 |
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| language | eng |
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| source | MEDLINE; Elsevier ScienceDirect Journals Complete |
| subjects | Biological and medical sciences Chromosome Mapping Chromosomes, Human, Pair 17 Fundamental and applied biological sciences. Psychology Genes Genes. Genome Genetic Linkage Genetic Markers Humans Molecular and cellular biology Molecular genetics Neurofibromatosis 1 - genetics Pedigree Polymorphism, Restriction Fragment Length Receptors, Cell Surface - genetics Receptors, Nerve Growth Factor |
| title | Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene |
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