NF1 gene structure and NF1 genotype/phenotype correlations

Monographs in Human Genetics

Volumn 16, Issue , 2008, Pages 46-62

  Upadhyaya, M ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84870201398     PISSN: 00770876     EISSN: 16623835     Source Type: Book Series    
DOI: 10.1159/000126543     Document Type: Article

References (81)

1. Huson SM, Harper PS, Compston D A S: Von Recklinghausen neurofibromatosis: clinical and population study in south-east Wales. Brain 1988;111:1355-1381. (Pubitemid 19028458)
2. Viskochil DH: Gene structure and function; in Upadhyaya M, Cooper DN (eds): Neurofibromatosis Type 1: From Genotype to Phenotype. BIOS Publishers, Oxford, 1998, pp 39-56.
3. Suzuki V, Suzuki H, Kayama T, Yoshimoto T, Shibahara S: Brain tumors predominantly express the neurofibromatosis type 1 gene transcripts containing the 63 base insert in the region coding for GTPase activating protein-related domain. Biochem Biophys Res Commun 1991;181:955-961.
4. Andersen LB, Ballester R, Marchuk DA, Chang E, Gutmann DH, et al: A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity. Mol Cell Biol 1993;13:487-495. (Pubitemid 23006926)
5. Costa RM, Yang T, Huynh DP, Pulst SM, Viskochil DH, Silva AJ, Brannan CI: Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1. Nat Genet 2001;27:399-405. (Pubitemid 32268420)
6. Gutmann D, Andersen L, Cole J: An alternatively spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle. Hum Mol Genet 1993;2:989-992. (Pubitemid 23216632)
7. Danglot G, Regnier V, Fauvet D, Vassal G, Kujas M, Bernheim A: Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5' part of the gene. Hum Mol Genet 1995;4:915-920.
8. Kaufmann D, Müller R, Kenner O, Leistner W, Hein C, Vogel W, Bartelt B: The N-terminal splice product NF1-10a-2 of the NF1 codes for a transmembrane segment. Biochem Biophys Res Commun 2002;294:496-503. (Pubitemid 34694121)
9. Park VM, Kenwright KA, Sturtevant DB, Pivnick EK: Alternative splicing of exons 29 and 30 in the neurofibromatosis type 1 gene. Hum Genet 1998;103:382-385. (Pubitemid 28542944)
10. Ars E, Serra E, De La Luna S, Estivill X, Lázaro C: Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA. Nucleic Acids Res 2000;28:1307-1312. (Pubitemid 30142672)
11. Thomson SA, Wallace MR: RT-PCR splicing analysis of the NF1 open reading frame. Hum Genet 2002;110:495-502. (Pubitemid 36074996)
12. Van Den Broucke I, Callens T, De Paepe A, Messiaen L: Complex splicing pattern generates great diversity in human NF1 transcripts. BMC Genomics 2002;3:13.
13. Hajra A, Martin-Gallardo A, Tarle SA, Freedman M, Wilson-Gunn S, Bernards A, Collins FS: DNA sequences in the promoter region of the NF1 gene are highly conserved between human and mouse. Genomics 1994;21:649-652. (Pubitemid 24189900)
14. Horan MP, Osborn M, Cooper DN, Upadhyaya M: Functional analysis of polymorphic variation within the promoter and 5' untranslated region of the neurofibromatosis type 1 (NF1) gene. Am J Med Genet 2004;131:227-231.
15. Osborn M, Cooper DN, Upadhyaya M: Molecular analysis of the 5'-flanking region of the neurofibromatosis type 1 (NF1) gene: identification of five sequence variants in NF1 patients. Clin Genet 2001;57:221-224. (Pubitemid 30168750)
16. Luijten M, Redeker S, Van Noesel MM, Troost D, Westveld A, Hulsebos TJ: Microsatellite instability and promoter methylation as possible causes of NF1 gene inactivation in neurofibromas. Eur J Hum Genet 2000;8:939-949.
17. Horan MP, Cooper DN, Upadhyaya M: Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours. Hum Genet 2000;107:33-39. (Pubitemid 30598944)
18. Marchuk DA, Saulino AM, Tavakkol R, Swaroop M, Wallace MR, et al: cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of NF1 gene product. Genomics 1991;11:931-940.
19. Gasparini P, Grifa A, Origone P, Coviello D, Antonacci R, Rocchi M: Detection of a neurofibromatosis type 1 homologous sequence by PCR: implications for the diagnosis and screening of genetic disease. Mol Cell Probes 1993;7:415-418. (Pubitemid 23343533)
20. Suzuki H, Ozawa N, Taga C, Kano T, Hattori M, Sakati Y: Genomic analysis of a NF1-related pseudogene on human chromosome 21. Gene 1994;147:247-250.
21. Purandare SM, Huntsman Breidenbach H, Li Y, Zhu XL, Sawada S, et al: Identification of neurofibromatosis 1 (NF1) homologous loci by direct sequencing, fluorescence in situ hybridization, and PCR amplification of somatic cell hybrids. Genomics 1995;30:476-485. (Pubitemid 26038545)
22. Hulsebos TJ, Bijleveld EH, Riegman PH, Smink LJ, Dunham I: Identification and characterization of NF1-related loci on human chromosomes 22, 14 and 2. Hum Genet 1996;98:7-11. (Pubitemid 26181274)
23. Kehrer-Sawatzki H, Schwickardt T, Assum G, Rocchi M, Krone W: A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2. Hum Genet 1997;100:595-600. (Pubitemid 28072362)
24. Barber JC, Cross IE, Douglas F, Nicholson JC, Moore KJ, Browne CE: Neurofibromatosis pseudogene amplification underlies euchromatic cytogenetic duplications and triplications of proximal 15q. Hum Genet 1998;103:600-607. (Pubitemid 28548483)
25. Luijten M, Wang Y, Smith BT, Westerveld A, Smink LJ, et al: Mechanism of spreading of highly related neurofibromatosis type 1 (NF1) pseudogenes on chromosome 2, 14 and 22. Eur J Hum Genet 2000;8:209-214. (Pubitemid 30189865)
26. Luijten M, Redeker S, Minoshima S, Shimizu N, Westerveld A, Hulsebos T: Duplication and transposition of the NF1 pseudogene regions on chromosomes 2, 14, and 22. Hum Gen 2000;109:109-116. (Pubitemid 32743200)
27. Fantes JA, Mewborn SK, Lese CM, Hedrick J, Brown RL, et al: Organisation of the pericentric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q. J Med Genet 2002;39:170-177. (Pubitemid 34252552)
28. Luijten M, Fahsold R, Mischung C, Westerveld A, Nürnberg P, Hulsebos T J M: Limited contribution of interchromosomal gene conversion to NF1 gene mutation. J Med Genet 2001;38:481-485.
29. Marchuk DA, Tavakkol R, Wallace MR, Brownstein BH, Taillon-Miller P, et al: A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene. Genomics 1992;13:672-680.
30. Yu H, Zhao X, Su B, Li D, Xu Y, et al: Expression of NF1 pseudogenes. Hum Mutat 2005;26:487-488. (Pubitemid 41572456)
31. Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, et al: Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 1990;249:181-186.
32. Gregory PE, Gutmann DH, Mitchell A, Park S, Boguski M, et al: Neurofibromatosis type 1 gene product (Neurofibromin) associates with microtubules. Somat Cell Mol Genet 1993;19:265-274. (Pubitemid 23216308)
33. Xu GF, O'Connell P, Viskochil DH, Cawthon R, Robertson M, et al: The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 1990a; 62:599-608.
34. Benedict PH, Szabo G, Fitzpatrick TB, Sinesi SJ: Melanotic macules in Albright's syndrome and in neurofibromatosis. JAMA 1968;205:618-626.
35. Riccardi VM: Neurofibromatosis; Phenotype, Natural History, and Pathogenesis, ed 2. The John Hopkins University Press, Baltimore and London, 1992.
36. Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, et al: Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007;44:81-88.
37. Charrow J, Listernick R, Ward K: Autosomal dominant multiple cafe-au-lait spots and neurofibromatosis-1: evidence of non-linkage. Am J Med Genet 1993;45:606-608. (Pubitemid 23066426)
38. Brunner HG, Hulsebos T, Steijlen PM, der Kinderen DJ, Vd Steen A, Hamel BC: Exclusion of the neurofibromatosis 1 locus in a family with inherited cafe-au-lait spots. Am J Med Genet 1993;46:472-474. (Pubitemid 23149698)
39. Abeliovich D, Gelman-Kohan Z, Silverstein S, Lerer I, Chemke J, Merin S, Zlotogora J: Familial cafe au lait spots: a variant of neurof ibromatosis type 1. J Med Genet 1995;32:985-986.
40. Pulst SM, Riccardi VM, Fain P, Korenberg JR: Familial spinal neurofibromatosis: clinical and DNA linkage analysis. Neurology 1991;41:1923-1927.
41. Poyhonen M, Leisti EL, Kytölä S, Leisti J: Hereditary spinal neurofibromatosis: a rare form of NF1? J Med Genet 1997;34:184-187. (Pubitemid 27107637)
42. Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, et al: An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet 2007;80:140-151. (Pubitemid 46047657)
43. Allanson JE, Upadhyaya M, Watson GH, Partingon M, Mackenzie A, et al: Watson syndrome: is it a subtype of type 1 neurofibromatosis? J Med Genet 1991;28:752-756. (Pubitemid 21922545)
44. Upadhyaya M, Shen M, Cherryson A, Farnham J, Maynard J, Huson SM, Harper PS: Analysis of mutations in neurofibromatosis type 1. Hum Mol Genet 1992;1:735-740.
45. Tassabehji M, Strachan T, Sharland M, Colley A, Donnai D, Harris R, Thakker N: Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. Am J Hum Genet 1993;53:90-95. (Pubitemid 23313739)
46. Bates G, Harper P, Jones L: Huntington's Disease. Oxford Uni Press, New York, 2002, p 558.
47. Vajo Z, Francomano CA, Wilkin DJ: The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: The Achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev 2000;21:23-39. (Pubitemid 32260394)
48. Mattout A, Dechat T, Adam SA, Goldman RD, Gruenbaum Y: Nuclear lamins, disease and aging. Curr Opin Cell Biol 2006;18:335-341.
49. Burke B, Stewart CL: The laminopathies: the functional architecture of the nucleus and its contribution to disease. Annu Rev Genomics Hum Genet 2006;7:369-405. (Pubitemid 44627935)
50. Skuse GR, Cappione AJ: RNA processing and clinical variability in neurofibromatosis type I (NF1). Hum Mol Genet 1997;6:1707-1712. (Pubitemid 27401614)
51. Szudek J, Birch SJ, Friedman JM: The National Neurofibromatosis Foundation International Database Participants. Growth in North American white children with neurofibromatosis 1 (NF1). J Med Genet 2000;37:933-938.
52. Szudek J, Joe H, Friedman JM: Analysis of intrafamilial phenotypic variation in neurofibromatosis type 1 (NF1). Genet Epidemiol 2002;23:150-164. (Pubitemid 34977115)
53. Easton DF, Ponder MA, Huson SM, Ponder BA: An analysis of variation in expression of neurofibromatosis type 1 (NF1): evidence for modifying genes. Am J Hum Genet 1993;53:305-313. (Pubitemid 23308924)
54. Rasmussen SJ, Friedman JM: NF1 gene and neurofibromatosis 1. Am J Epidemiol 2000;151:33-34.
55. Bahuau M, Pelet A, Vidaud D, Lamireau T, Bail B, et al: GDNF as a candidate modifier for neurofibromatosis enteric phenotype. J Med Genet 2001;38:638-643. (Pubitemid 32835631)
56. Serra E, Ars E, Ravella A, Sanchez A, Puig S, et al: Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations. Hum Genet 2001;108:416-429. (Pubitemid 32492448)
57. Wiest V, Eisenbarth I, Schmegner C, Krone W, Assum G: Somatic NF1 mutation spectra in a family with neurofibromatosis type 1 toward a theory of genetic modifiers. Hum Mutat 2003;22:423-427. (Pubitemid 38009944)
58. Riccardi VM: Genotype, malleotype, phenotype, and randomness: lessons from neurofibromatosis-1 (NF-1). Am J Hum Genet 1993;53:301-304. (Pubitemid 23308923)
59. Reilly KM, Tuskan RG, Christy E, Loisel DA, Ledger J, et al: Susceptibility to astrocytoma in mice mutant for Nf1 and Trp53 is linked to chromosome 11 and subject to epigenetic effects. Proc Natl Acad Sci USA 2004;101:13008-13013. (Pubitemid 39167574)
60. Reilly KM, Broman KW, Bronson RT, Tsang S, Loisel DA, et al: An imprinted locus epistatically influences Nstr1 and Nstr2 to control resistance to nerve sheath tumors in a neurofibromatosis type 1 mouse model. Cancer Res 2006;66:62-68. (Pubitemid 43166010)
61. Upadhyaya M, Maynard J, Osborn M, Harper PS: Six novel mutations in the neurofibromatosis type 1 (NF1) gene. Hum Mutat 1997;10:248-250. (Pubitemid 27371687)
62. Upadhyaya M, Cooper DN: The mutational spectrum in neurofibromatosis type 1 and its underlying mechanisms; in Upadhyaya M, Cooper DN (eds): NF1: From Genotype To Phenotype. BIOS Publishers, Oxford, 1998.
63. Castle B, Baser ME, Huson SM, Cooper DN, Upadhyaya M: Evaluation of genotype-phenotype correlations in neurofibromatosis type 1. J Med Genet 2003;40:e109.
64. Kayes LM, Burke W, Riccardi VM, Bennet R, Ehrlich P, Rubenstein A, Stephens K: Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients. Am J Hum Genet 1994;54:424-436. (Pubitemid 24068222)
65. De Raedt T, Brems H, Wolkenstein P, Vidaud D, Pilotti S, et al: Elevated risk for MPNST in NF1 microdeletion patients. Am J Hum Genet 2003;72:1288-1292. (Pubitemid 36530016)
66. Kluwe L, Friedrich RE, Peiper M, Friedman J, Mautner VF: Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors. Hum Mutat 2003;22:420.
67. Upadhyaya M, Spurlock G, Majounie E, Griffiths S, Forrester N, et al: The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral nerve sheath tumours (MPNSTs). Hum Mutat 2006;27:716.
68. Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, et al: High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. Am J Hum Genet 2004;75:410-423. (Pubitemid 39095817)
69. Izawa I, Tamaki N, Saya H: Phosphorylation of neurofibromatosis type 1 gene product (neurofibromin) cAMP-dependent protein kinase. FEBS Lett 1996;382:53-59. (Pubitemid 26092233)
70. Basu TN, Gutmann DH, Fletcher JA, Glover TW, Collins FS, Downward J: Aberrant regulation of ras proteins in malignant tumor cells from type 1 neurofibromatosis patients. Nature 1992;356:713-715.
71. Arun D, Gutmann DH: Recent advances in neurofibromatosis type 1. Curr Opin Neurol 2004;17:101-105. (Pubitemid 38446449)
72. Serra E, Rosenbaum T, Winner U, Aldeo R, Ars E, et al: Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two Schwann cells subpopulations. Hum Mol Genet 2000;9:3055-3084.
73. Zhu Y, Ghosh P, Charnay P, Burns DK, Parada LF: Neurofibromas in NF1: Schwann cell origin and role of tumor environment. Science 2002;296:920-922. (Pubitemid 34464899)
74. Baralle D, Mattocks C, Kalidas K, Elmslie F, Whittaker J, et al: Different mutations in the NF1 gene are associated with neurofibromatosis-Noonan syndrome (NFNS). Am J Med Genet A 2003;19:1-8. (Pubitemid 37063906)
75. De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, et al: NF1 gene mutations represent the major molecular event underlying neurofibromatosis- Noonan syndrome. Am J Hum Genet 2005;77:1092-1101. (Pubitemid 41698528)
76. Bentires-Alj M, Kontardis MI, Neel BG: Stops along the RAS pathway in human genetic disease. Nat Med 2006;12:283-285. (Pubitemid 43355073)
77. Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, et al: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet 2007;39:75-79. (Pubitemid 46026504)
78. Cichowski K, Jacks T: NF1 tumor suppressor gene function. Narrowing the GAP. Cell 2000;104:593-604.
79. Lee TK, Friedman JM: Analysis of NF1 transcriptional regulatory elements. Am J Med Genet A 2005;137:130-135. (Pubitemid 41262678)
80. Fahsold R, Hoffmeyer S, Mischung C, Gille C, Ehlers C, et al: Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. Am J Hum Genet 2000;66:790-818. (Pubitemid 30470484)
81. Aravind L, Neuwald AF, Ponting CP: Sec14p-like domains in NF1 and Dbl-like proteins indicate lipid regulation of Ras and Rho signaling. Curr Biol 1999;9:R195-R197. (Pubitemid 29181825)