Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis

Human Mutation

Volumn 7, Issue 1, 1996, Pages 85-88

  Robinson, Peter N ^a   Buske, Annegret ^a   Neumann, Regina ^a   Tinschert, Sigrid ^a   Nürnberg, Peter ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; EXON; FEMALE; GENE DELETION; HUMAN; HUMAN CELL; HUMAN TISSUE; MOLECULAR CLONING; NEUROFIBROMATOSIS; POINT MUTATION; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS;

BASE SEQUENCE; CHILD; EXONS; FEMALE; GENES, NEUROFIBROMATOSIS 1; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NEUROFIBROMATOSES; POLYMERASE CHAIN REACTION;

EID: 0030030868     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)7:1<85::AID-HUMU17>3.0.CO;2-O     Document Type: Article

References (16)

1. Costes B, Girodon E, Ghanem N, Chassignol M, Thuong NT, Dupret D, Goossens M (1993) Psoralen-modified oligonucleotide primers improve detection of mutations by denaturing gradient gel electrophoresis and provide an alternative to GC-clamping. Hum Mol Genet 2:393-397.
2. Cummings LM, Glatfelter AA, Marchuk DA (1993) NF1-related loci on chromosomes 2, 12, 14, 15, 20, 21, and 22: A potential role of gene conversion in the high spontaneous mutation rate of NF1? Am J Hum Genet 53: 672A.
3. Grompe M (1993) The rapid detection of unknown mutations in nucleic acids. Nature Genet 5:111-117.
4. Hoffmeyer S, Assum G, Kaufmann D, Krone W (1994) Unequal expression of NF1 alleles. Nature Genet 6:331.
5. Hoffmeyer S, Assum G (1994) An Rsal polymorphism in the transcribed region of the neurofibromatosis (NF1)-gene. Hum Genet 93:481-482.
6. Huson SM, Hughes RAC (eds) (1994) The Neurofibromatoses: A Pathogenetic and Clinical Overview. London: Chapman & Hall.
7. Lerman LS, Silverstein K (1987) Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis. Methods Enzymol 155:482-501.
8. Li Y, O'Connell P, Breidenbach H, Cawthon R, Stevens J, Xu G, Neu S, Robertson M, White R, Viskochil D (1995) Genomic organization of the neurofibromatosis 1 gene. Genomics 25: 9-18.
9. National Institutes of Health Consensus Development Conference (1988) Neurofibromatosis-Conference Statement. Arch Neurol 45:575-578.
10. Riccardi VM (1992) Neurofibromatosis. Phenotype, Natural History, and Pathogenesis. 2nd Ed. Baltimore: Johns Hopkins University Press.
11. Sheffield VC, Cox DR, Lerman LS, Myers RM (1989) Attachment of a 40-base pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc Natl Acad Sci USA 86:232-236.
12. Suzuki H, Takahashi K, Kubota Y, Shibahara S (1992) Molecular cloning of a cDNA coding for neurofibromatosis type 1 protein isoform lacking the domain related to ras GTPase-activating protein. Biochem Biophys Res Commun 187:984-990.
13. Upadhyaya M, Shaw DJ, Harper PS (1994) Molecular basis of neurofibromatosis type 1 (NF1): Mutation analysis and polymorphisms in the NF1 gene. Hum Mutat 4:83-101.
14. Valero MC, Velasco E, Moreno F, Hernandéz-Chico C (1994) Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE). Hum Mol Genet 3:639-641.
15. Wartell RM, Hosseini SH, Moran CP (1990) Detecting base pair substitutions in DNA fragments by temperature-gradient gel electrophoresis. Nucleic Acids Res 8:2699-2705.
16. White R, O'Connell P (1991) Identification and characterization of the gene for neurofibromatosis type 1. Curr Opin Genet Dev 1:15-19.