Gene: [17q112/NF1] neurofibromin 1; neurofibromatosis 1 (von Recklinghausen disease; Watson syndrome); Watson syndrome (pulmonic stenosis with cafe-au-lait; MIM:193520); [VRNF ]
HET | In contrast to peripheral neurofibromatosis (NF1, von Recklinghausen disease), the central type (NF2) is determined by the gene located in the long arm of Chr 22 (GEM:22q122/NF2). The most comprehensive reviews on clinical genetics of both types are available in: Crowe, Schull, Niel: A Clinical, Pathological, and Genetic Study of Multiple Neurofibromatosis (Springfield, IL: Ch C Thomas), 1956; Riccardi, Eichner: Neurofibromatosis. Phenotype, Natural History and Pathogenesis (Baltimor: The John Hopkins Univ Press), 1986; Special Issue: J Med Genet, 24, N9, 1987; Special Issue: Amer J Hum Genet, 44, N1, 1989." |
MAP | Loci:
GEM:17q1/EGFR2; GEM:17q1/THRA; FAM:HOXB/17q2; GEM:17q2/NGFR. [1] cen-D17Z1-D17S33-(NF1,D17S57)-D17S73-D17S55-D17S54-(ERBB2,ERBA1)-HOXB- -NGFR-qt." |
REL | GEM:21^/NF1L1; GEM:00.0/NF1L2; GEM:00.0/NF1L3; GEM:00.0/NF1L4; GEM:00.0/NF1L5; GEM:00.0/NF1L6; GEM:15^/NF1P1." |
REF | LOC,LIN "Barker D &:
CCG, 46, (HGM9), 576, 1987a LOC,LIN "Barker D &: Science, 236, 1100-1102, 1987b PAT,HIS,PHE,FOG "Borberg A: Acta Psychiat Neurol, 71, (Suppl), 1-239, 1951 LIN,MAP "Collins &: AJHG, 44, 1-5, 1989 PAT,HIS,PHE,FOG "D'Agostino &: Cancer, 16, 1015-1027, 1963 PAT,HIS,PHE,FOG "Filippard M: J Genet Hum, 10, 338-346, 1961 LIN,MAP "Fountain JW &: AJHG, 44, N1, 58-67, 1989a LIN,MAP "Fountain JW &: Science, 244, 1085-1086, 1989b PAT,HIS,PHE,FOG "Friedman &: J Nat Cancer Inst, 69, 1289-1292, 1982 LIN,MAP "Goldgar DE &: AJHG, 44, N1, 6-12, 1989 PAT,HIS,PHE,FOG "Herrmann J: Ann Surg, 131, 206-217, 1950 PAT,MOD,MOU "Hinrichs SH &: Science, 237, 1340-1343, 1987 PAT,HIS,PHE,FOG "Holt JF: Am J Roentgenol, 130, 615-639, 1978 FOG,POP,MGC "Huson &: J Med Genet, 26, 704-711, 1989a FOG,POP,MGC "Huson &: J Med Genet, 26, 712-721, 1989b PAT,HIS,PHE,FOG "Kanter &: Neurology, 30, 851-859, 1980 LIN,MAP "Ledbetter DH &: AJHG, 44, N1, 20-24, 1989 LIN,MAP "O'Connell P &: AJHG, 44, 51-57, 1989a LIN,MAP "O'Connell P &: Science, 244, 1086-1088, 1989b PAT,PHE "Partington &: Proc Greenwood Genet Center, 4, 1-105, 1985 FOG,POP,MGC "Riccardi VM, Lewis: AJHG, 42, 284-289, 1988 FOG,POP,MGC "Riccardi VM &: Am J Med Genet, 18, 169-176, 1984 REV "Riccardi VM: Adv Neurol, 29, 1-9, 1981 FOG,POP,MGC "Samuelsson, Akesson: Hereditas, 108, 169-171, 1988 LOC,MUT,CYG "Schmidt &: Am J Med Genet, 28, 771-777, 1987 LOC,LIN,MOL "Seizinger BR &: CCG, 46, (HGM9), 690, 1987a LOC,LIN,MOL "Seizinger BR &: Cell, 49, (5 Jun), 589-594, 1987b LOC,MUT,CYG "Siggers &: New Engl J Med, 292, 1134, 1975 LOC,LIN,MAP "Upadhyaya &: CCG, 51, (HGM10), 1094, 1989 LOC,LIN,MOL "van Tuinen P &: Genomics, 1, 374-381, 1987 LOC,LIN,MOL "Wallace &: CCG, 51, (HGM10), 1101, 1989 PAT,PHE "Watson GH: Arch Dis Child, 42, 303-307, 1967 |
SWI | SWISSPROT: P21359 |
KEY | onc, neu, derm |
CLA | coding, basic |
LOC | 17 q11.2 |
MIM | MIM: 162200 |
SYN | VRNF |
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