Evaluation of the protein truncation test and mutation detection in the NF1 gene: Mutational analysis of 15 known and 40 unknown mutations

Human Genetics

Volumn 105, Issue 4, 1999, Pages 327-332

  Osborn, M J ^a   Upadhyaya, M ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE; CYTOSINE; GUANINE; NEUROFIBROMIN; RNA; THYMINE;

ALLELE; ARTICLE; CHROMOSOME 17Q; CLINICAL ARTICLE; DELETION MUTANT; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; LYMPHOCYTE; NEUROFIBROMATOSIS; NONSENSE MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 0032848571     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004399900135     Document Type: Article

References (31)

1. Abernathy CR, Rasmussen SA, Stalker HJ, Zori R, Driscoll DJ, Williams CA, Kousseff BG, Wallace MR (1997) NF1 mutation analysis using a combined heteroduplex/SSCP approach. Hum Mutat 9:548-554
2. Andreutti-Zaugg C, Scott RJ, Iggo R (1997) Inhibition of nonsense-mediated messenger RNA decay in clinical samples facilitates detection of human MSH2 mutations with an in vivo fusion protein assay and conventional techniques. Cancer Res 57:3288-3293
3. Baserga SJ, Benz EJ, Jr (1992) β-globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability. Proc Natl Acad Sci U S A 89:2935-2939
4. Christiano AM, Amano S, Eichenfield LF, Burgeson RE, Uitto J (1997) Premature termination codon mutations in the type VII collagen gene in recessive dystrophic epidermolysis bullosa result in nonsense-mediated mRNA decay and absence of functional protein. J Invest Dermatol 109:390-394
5. Colman SD, Abernathy CR, Ho VT, Wallace MR (1997) Four frameshift mutations in neurofibromatosis type 1 caused by small insertions. J Med Genet 34:579-581
6. Cooper DN, Krawczak M (1993) Human gene mutation. BIOS Scientific Publishers. Oxford
7. Culbertson MR (1999) RNA surveillance unforeseen consequences for gene expression, inherited genetic disorders and cancer. Trends Genet 15:74-80
8. Formstone CJ, Wacey AI, Berg LP, Rahman S, Bevan D, Rowley M, Voke J, Bernardi F, Legnani C, Simioni P, Girolami A, Tuddenham EGD, Kakkar VV, Cooper DN (1995) Detection and characterisation of 7 novel protein-S (PROS) gene lesions - evaluation of reverse transcript-polymerase chain-reaction as a mutation screening strategy. Blood 86:2632-2641
9. Heim RA, Kam-Morgan LNW, Binnie CG, Corns DD, Cayouette MC, Farber RA, Aylsworth AS, Silverman LM, Luce MC (1995) Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. Hum Mol Genet 4:975-981
10. Hoffmeyer S, Assum G (1994) An Rsa1 polymorphism in the transcribed region of the neurofibromatosis (NF1) gene. Hum Genet 93:481-482
11. Hoffmeyer S, Assum G, Kaufmann D, Nürnberg P, Krone W (1995) On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1. Hum Mol Genet 4:1267-1272
12. Hoffmeyer S, Nürnberg P, Ritter H, Fahsold R, Leistner W, Kaufmann D, Krone W (1998) Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors. Am J Hum Genet 62:269-277
13. Lamnade SR, Bateman JF, Hutchison W, McKinlay Gardner RJ, Bower SP, Byrne E, Dahl HH (1998) Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency. Hum Mol Genet 7:981-989
14. Li Y, O'Connell P, Briedenbach HH, Cawthon R, Stevens J, Xu G, Neil S, Robertson M, White R, Viskochil D (1995) Genomic organisation of the neurofibromatosis type 1 gene (NF1). Genomics 25:9-18
15. Maquat LE (1995) When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells. RNA 1:453-465
16. Messiaen L, Callens T, De Paepe A, Craen M, Mortier G (1997a) Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene. Hum Genet 101:75-80
17. Messiaen LM, Callens T, De Paepe A, Mortier G (1997b) Identification of 9 different NF1 mutations in 13 unrelated Belgian patients using the combined approach of the protein truncation assay and heteroduplex analysis. Am J Hum Genet 61:A74(404)
18. Nakai K, Sakamoto H (1994) Construction of a novel database containing aberrant splicing mutations of mammalian genes. Gene 141:171-177
19. Park VM, Pivnick EK (1998) Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients. J Med Genet 35:813-820
20. Perrin G, Morris MA, Antonarakis SE, Boltshauser E, Hutter P (1996) Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene. Hum Mutat 7:172-175
21. Purandare SM, Lanyon WG, Connor JM (1994) Characterisation of inherited and sporadic mutations in neurofibromatosis type 1. Hum Mol Genet 3:1109-1115
22. Robinson PN, Buske A, Neumann R, Tinschert S, Nürnberg P (1996) Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis. Hum Mutat 7:85-88
23. Shen MH, Harper PS, Upadhyaya M (1995) Amplification of the total coding sequence of the NF1 gene from peripheral blood lymphocyte RNA. PCR Methods Appl 4:311-313
24. Shen MH, Harper PS, Upadhyaya M (1996) Molecular genetics of neurofibromatosis type 1 (NF1). J Med Genet 33:2-17
25. Side L, Taylor B, Cayouette M, Connor E, Thompson P, Luce M, Shannon K (1997) Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders. N Engl J Med 336:1713-1720
26. Upadhyaya M, Cooper DN (eds) (1998) Neurofibromatosis type 1: from genotype to phenotype. BIOS Publishers, Oxford
27. Upadhyaya M, Osborn M, Maynard J, Harper P (1996) Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene. Am J Med Genet 67:421-423
28. Upadhyaya M, Osborn MJ, Maynard J, Kim MR, Tamanoi F, Cooper DN (1997) Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. Hum Genet 99:88-92
29. Viskochil DH, Buchberg AM, Xu G, Stevens J, et al. (1990) Deletion and a translocation interrupt a cloned gene at neurofibromatosis type 1 locus. Cell 62:187-192
30. Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, et al. (1990) Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 249:182-186
31. Will K, Dörk T, Stuhrmann M, von der Hardt H, Ellemunter H, Tümmler B, Schmidtke J (1995) Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients. Hum Mutat 5:210-220