Independent NF1 mutations in two large families with spinal neurofibromatosis [1]

Journal of Medical Genetics

Volumn 40, Issue 2, 2003, Pages 122-126

  Messiaen, L ^f   Riccardi, V ^a   Peltonen, J ^b,c   Maertens, O ^g   Callens, T ^g   Karvonen, S L ^b   Leisti, E L ^g   Koivunen, J ^b   Vandenbroucke, I ^g   Stephens, K ^d   Poyhonen M ^e  

^a The Neurofibromatosis Institute   (United States)

^b UNIVERSITY OF OULU   (Finland)

^c UNIVERSITY OF TURKU   (Finland)

^d UNIVERSITY OF WASHINGTON   (United States)

^e Vaestoliitto   (Finland)

^f GHENT UNIVERSITY HOSPITAL   (Belgium)

^g NONE

Author keywords

[No Author keywords available]

Indexed keywords

CAFE AU LAIT SPOT; CHROMOSOME 17Q; CONTROLLED STUDY; EXON; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; LETTER; MUTATIONAL ANALYSIS; NEUROFIBROMATOSIS; PHENOTYPE; PRIORITY JOURNAL; SPINAL ROOT;

EID: 0037323920     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (26)

1. Riccardi VM. Von Recklinghausen neurofibromatosis. N Engl J Med 1981;305:1617-27.
2. Friedmann JM, Riccardi VM. Neurofibromatosis: phenotype, natural history, and pathogenesis. Baltimore: Johns Hopkins University Press, 1999.
3. Carey JC, Viskochil DH. Neurofibromatosis type 1: a model condition for the study of the molecular basis of variable expressivity in human disorders. Am J Med Genet 1999;89:7-13.
4. Cawthon RM, O'Connell P, Buchberg AM, Viskochil D, Weiss RB, Culver M, Stevens J, Jenkins NA, Copeland NG, White R. Identification and characterization of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EVI2 and mapping of other transcripts. Genomics 1990;7:555-65.
5. Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, Wolff RK, Culver M, Carey JC, Copeland NG, Jenkins NA, White R, Cawthon RM. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 1990;62:187-92.
6. Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, Fountain JW, Brereton A, Nicholson J, Mitchell AL, Brownstein BH, Collins FS. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 1990;249:181-6.
7. Trofatter JA, MacCollin MM, Rutter JL, Murrell JR, Duyao MP, Parry DM, Eldridge R, Kley N, Menon AG, Pulaski K, Haase VH, Ambrose CM, Munroe D, Bove C, Haines JL, Martuza RL, MacDonald ME, Seizinger BR, Short MP, Buckler AJ, Gusella JF. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 1993;72:791-800.
8. Rouleau GA, Merel P, Lutchman M, Sanson M, Zucman J, Marineau C, Hoang-Xuan K, Demczuk S, Desmaze C, Plougastel B, Pulst SM, Lenoir G, Bijlsma E, Fashold R, Dumanski J, de Jong P, Parry D, Eldrige R, Aurias A, Delattre O, Thomas G. Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature 1993;363:515-21.
9. Stumpf D, Alksne J, Annegers J, Brown S, Conneally P, Housman D, Leppert M, Miller J, Moss M, Pilegi A, Rapin I, Strohman R, Swabson L, Zimmersman A. Neurofibromatosis conference statement. Arch Neurol 1991;45:955-61.
10. Huson S, Hughes RA. The neurofibromatoses: a clinical and pathogenic overview. London: Chapman & Hall, 1994.
11. Thakkar SD, Feigen U, Mautner VF. Spinal tumours in neurofibromatosis type 1: an MRI study of frequency, multiplicity and variety. Neuroradiology 1999;41:625-9.
12. Poyhonen M, Leisti EL, Kytola S, Leisti J. Hereditary spinal neurofibromatosis: a rare form of NF1? J Med Genet 1997;34:184-7.
13. Egelhoff JC, Bates DJ, Ross JS, Rothner AD, Cohen BH. Spinal MR findings in neurofibromatosis types 1 and 2. AJNR Am J Neuroradiol 1992;13:1071-7.
14. Pulst SM, Riccardi VM, Fain P, Korenberg JR. Familial spinal neurofibromatosis: clinical and DNA linkage analysis. Neurology 1991;41:1923-7.
15. Ars E, Kruyer H, Gaona A, Casquero P, Rosell J, Volpini V, Serra E, Lazaro C, Estivill X. A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene. Am J Hum Genet 1998;62:834-41.
16. Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, De Paepe A. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat 2000;15:541-55.
17. Koivunen J, Kuorilehto T, Kaisto T, Peltonen S, Peltonen J. Ultrastructural localization of NF1 tumor suppressor protein in human skin. Arch Dermatol Res 2002;293:646-9.
18. Shapiro MB, Senapathy P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 1987;15:7155-74.
19. Fahsold R, Hoffmeyer S, Mischung C, Gille C, Ehlers C, Kucukceylan N, Abdel-Nour M, Gewies A, Peters H, Kaufmann D, Buske A, Tinschert S, Nurnberg P. 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.
20. Kaufmann D, Muller R, Bartelt B, Wolf M, Kunzi-Rapp K, Hanemann CO, Fahsold R, Hein C, Vogel W, Assum G. Spinal neurofibromatosis without cafe-au-lait macules in two families with null mutations of the NF1 gene. Am J Hum Genet 2001;69:1395-400.
21. Ars E, Serra E, Garcia J, Kruyer H, Gaona A, Lazaro C, Estivill X. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum Mol Genet 2000;9:237-47.
22. Kim M, Tamanoi F. Neurofibromatosis 1 GTPase activating protein-related domain and its functional significance. In: Upadhyuya M, Cooper DN, eds. Neurofibromatosis type 1: from genotype to phenotype. Oxford: BIOS Scientific Publishers, 1998:89-112.
23. Scheffzek K, Ahmadian MR, Wiesmuller L, Kabsch W, Stege P, Schmitz F, Wittinghofer A. Structural analysis of the GAP-related domain from neurofibromin and its implications. EMBO J 1998;17:4313-27.
24. Klose A, Ahmadian MR, Schuelke M, Scheffzek K, Hoffmeyer S, Gewies A, Schmitz F, Kaufmann D, Peters H, Wittinghofer A, Nurnberg P. Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. Hum Mol Genet 1998;7:1261-8.
25. Pummi K, Yla-Outinen H, Peltonen J. Oscillation and rapid changes of NF1 mRNA steady-state levels in cultured human keratinocytes. Arch Dermatol Res 2000;292:422-4.
26. Dorschner MO, Sybert VP, Weaver M, Pletcher BA, Stephens K. NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. Hum Mol Genet 2000;9:35-46.