The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1

Journal of Korean Medical Science

Volumn 21, Issue 1, 2006, Pages 107-112

  Jeong, Seon Yong ^a   Park, Sang Jin ^a   Kim, Hyon J ^a  

^a Ajou University School of Medicine   (South Korea)

Author keywords

Genotype; Korea; Mutation; Neurofibromatosis 1; NF1 Gene; Phenotype; Variation

Indexed keywords

EID: 33144488249     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2006.21.1.107     Document Type: Review

References (27)

1. Li Y, O'Connell P, Breidenbach HH, Cawthon R, Stevens J, Xu G, Neil S, Robertson M, White R, Viskochil D. Genomic organization of the neumfibromatosis 1 gene (NF1). Genomics 1995; 25: 9-18.
2. Marchuk DA, Saulino AM, Tavakkol R, Swaroop M, Wallace MR, Andersen LB, Mitchell AL, Gutmann DH, Boguski M, Collins FS. cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics 1991; 11: 931-40.
3. Xu GF, O'Connell P, Viskochil D, Cawthon R, Robertson M, Culver M, Dunn D, Stevens J, Gesteland R, White R. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 1990; 62:599-608.
4. 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.
5. Ahmadian MR, Kiel C, Stege P, Scheffzek K. Structural fingerprints of the Ras-GTPase activating proteins neurofibromin and p120GAP. J Mol Biol 2003; 329:699-710.
6. Mattocks C, Baralle D, Tarpey P, Ffrench-Conslant C, Bobrow M, Whittaker J. Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. J Med Genet 2004;41:e48.
7. Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, Rubenstein A, Viskochil D. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 1997; 278:51-7.
8. Riccardi VM. Genotype, malleotype, phenotype, and randomness: lessons from neurofibromatosis-1 (NF-1). Am J Hum Genet 1993; 53:301-4.
9. Easton DF, Ponder MA, Huson SM, Ponder BA. An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. Am J Hum Genet 1993; 53:305-13.
10. 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; 22:423-7.
11. Park KC, Choi HO, Han WS, Hwang JH, Park KH, Kim KH, Chung JH, Eun HC. Identification of two novel frame shift mutations of the NF1 gene in Korean patients with neurofibromatosis type 1. J Korean Med Sci 2000; 15:542-4.
12. Park KC, Choi HO, Park KH, Kim KH, Eun HC. A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient. J Hum Genet 2000; 45:84-5.
13. Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD. 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.
14. De Luca A, Schirinzi A, Buccino A, Bottillo I, Sinibaldi L, Torrente I, Ciavarella A, Dottorini T, Porciello R, Giustini S, Calvieri S, Dallapiccola B. Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. Hum Mutat 2004; 23:629.
15. Upadhyaya M, Osborn MJ, Maynard J, Kim MR, Tamanoi F, Cooper DN. Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. Hum Genet 1997; 99:88-92.
16. Klose A, Ahmadian MR, Schuelke M, Scheffzek K, Hoffmeyer S, Gewies A, Schmitz F, Kaufmann D, Peters H, Wittinghofer A, Nurn berg P. Selective disactivation of neurofibromin GAP activity in n̈eurofibromatosis type 1. Hum Mol Genet 1998; 7:1261-8.
17. 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 gerie 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.
18. Guo HF, Tong J, Hannan F, Luo L, Zhong Y. A neurofibromatosis-1- regulated. pathway is required, for learning in Drosophila. Nature 2000;403:895-8.
19. Szudek J, Joe H, Friedman JM. Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1). Genet Epidemiol 2002; 23: 150-64.
20. Ars E, Kruyer H, Morell M, Pros E, Serra E, Ravella A, Estivill X, Lazaro C. Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. J Med Genet 2003; 40: e82.
21. Side L, Taylor B, Cayouette M, Conner E, Thompson P, Luce M, Shannon K. Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders. N Engl J Med 1997; 336:1713-20.
22. Messiaen L, Callens T, De Paepe A, Craen M, Mortier G. Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene. Hum Genet 1997; 101: 75-80.
23. Buske A, Gewies A, Lehmann R, Ruther K, Algermissen B, Nurnberg P, Tinschert S. Recurrent NF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 (NF1). Am J Med Genet 1999; 86:328-30.
24. Bahuau M, Pelet A, Vidaud D, Lamireau T, LeBail B, Munnich A, Vidaud M, Lyonnet S, Lacombe D. GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype. J Med Genet 2001; 38:638-43.
25. Chong JA, Moran MM, Teichmann M, Kaczmarek JS, Roeder R, Clapham DE. TATA-binding protein (TBP)-like factor (TLF) is a functional regulator of transcription: reciprocal regulation of the neurofibromatosis type 1 and c-fos genes by TLF/TRF2 and TBP. Mol Cell Biol 2005; 25:2632-43.
26. Maynard J, Rrawczak M, Upadhyaya M. Characterization and Significance of nine novel mutation in exon 16 of the neurofibromatosis type 1 (NF1) gene. Hum Genet 1997; 99:674-6.
27. Robinson PN, Boddrich A, Peters H, Tinschert S, Buske A, Kaufmann D, Numberg P. Two recurrent nonsense mutations and a 4bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene. Hum Genet 1995; 96: 95-8.