Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis

Journal of Medical Genetics

Volumn 45, Issue 6, 2008, Pages 332-339

  Hadfield, K D ^a   Newman, W G ^a   Bowers, N L ^a   Wallace, A ^a   Bolger, C ^b   Colley, A ^c   McCann, E ^d   Trump, D ^a   Prescott, T ^e   Evans, D G R ^a,f  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b National Centre for Neurosurgery   (Ireland)

^c LIVERPOOL HOSPITAL   (Australia)

^d GLAN CLWYD HOSPITAL   (United Kingdom)

^e OSLO UNIVERSITY HOSPITAL   (Norway)

^f ST MARY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADULT; ALLELE; ARTICLE; CHILD; CONTROLLED STUDY; DNA SEQUENCE; GENE; GENE LOSS; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; NEURILEMOMA; NF2 GENE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SMARCB1 GENE; SPINAL CORD TUMOR;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHROMOSOMAL PROTEINS, NON-HISTONE; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NEURILEMMOMA; NEUROFIBROMIN 2; PEDIGREE; PHENOTYPE; SEQUENCE ALIGNMENT; TRANSCRIPTION FACTORS;

EID: 45249094753     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.056499     Document Type: Article

References (29)

1. Niimura M. Neurofibromatosis. Rinsho Derma 1973;15:653-63.
2. Evans DG, Huson SM, Donnai D, Neary W, Blair V, Newton V, Strachan T, Harris R.A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling. J Med Genet 1992;29:847- 52.
3. MacCollin M, Woodfin W, Kronn D, Short MP. Schwannomatosis: a clinical and pathologic study. Neurology 1996;46:1072-9.
4. Wu C-L, Neary W, Thakker N, Black G, Lye R, Read A, Ramsden RT, Evans DGR. Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomas. J Med Genet 1998;35:973-7.
5. Moyhuddin A, Baser ME, Watson C, Purcell S, Ramsden RT, Heiberg A, Wallace AJ, Evans DGR. Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring. J Med Genet 2003;40:459-63.
6. Murray A, Hughes TAT, Neal JW, Howard E, Evans DGR, Harper PS. A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2? J Neurol Neurosurg Psychiat 2006;77:269-71.
7. Jacoby LB, Jones D, Davis K, Kronn D, Short MP, Gusella J, MacCollin M. Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. Am J Hum Genet 1997;61:1293-302.
8. Evans DG, Mason S, Huson SM, Ponder M, Harding AE, Strachan T. Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study. J Neurol Neurosurg Psychiatry 1997;62:361-6.
9. MacCollin M, Willett C, Heinrich B, Jacoby LB, Acierno JS Jr, Perry A, Louis DN. Familial schwannomatosis: exclusion of the NF2 locus as the germline event. Neurology 2003;24;60:1968-74.
10. Buckley PG, Mantripragada KK, Diaz de Stahl T, Piotrowski A, Hansson CM, Kiss H, Vetrie D, Emberg IT, Nordenskjold M, Bolund L, Sainio M, Rouleau GA, Niimura M, Wallace AJ, Evans DG, Grigelionis G, Menzel U, Dumanski JP. Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2. Hum Mutat 2005;26:540-9.
11. Hulsebos TJ, Plomp AS, Wolterman RA, Robanus-Maandag EC, Baas F, Wesseling P. Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am J Hum Genet 2007;80:805-10.
12. Bruder CE, Dumanski JP, Kedra D. The mouse ortholog of the human SMARCB1 gene encodes two splice forms. Biochem Biophys Res Commun 1999;257:886-90.
13. Versteege I, Sevenet N, Lange J, Rousseau-Merck MF, Ambras P, Handgretinger R, Aurias A, Delattre O. Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature 1998;394:203-6.
14. Sevenet N, Sheridan E, Amram D, Schneider P, Handgretinger R, Delattre O. Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. Am J Hum Genet 1999;65:1342-8.
15. Smitz U, Mueller W, Weber M, Sévenet N, Delattre O, von Deimling A. INI1 mutations in menigiomas at a potential hotspot in exon 9. Br J Cancer 2001;84:199-201.
16. MacCollin M, Chiocca EA, Evans DG, Friedman JM, Horvitz R, Jaramillo D, Lev M, Mautner VF, Niimura M, Plotkin SR, Sang CN, Stemmer-Rachamimov A, Roach ES. Diagnostic criteria for schwannomatosis. Neurology 2005;64:1838-45.
17. Baser ME, Friedman JM, Evans DG. Increasing the specificity of diagnostic criteria for schwannomatosis. Neurology 2006;66:730-2.
18. Wallace AJ, Watson CJ, Oward E, Evans DG, Elles RG. Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis. Genet Test 2004;8:368-80.
19. Evans DG, Ramsden RT, Shenton A, Gokhale C, Bowers NL, Huson SM, Pichert G, Wallace A. Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification. J Med Genet 2007;44:424-8.
20. Kohashi K, Oda Y, Yamamoto H, Tamiya S, Izumi T, Ohta S, Taguchi T, Suita S, Tsuneyoshi M. Highly aggressive behavior of malignant rhabdoid tumor: a special reference to SMARCB1/INI1 gene alterations using molecular genetic analysis including quantitative real-time PCR. J Cancer Res Clin Oncol 2007;133:817-24.
21. Sunyaev S, Ramensky V, Koch I, Lathe W 3rd, Kondrashov AS, Bork P. Prediction of deleterious human alleles. Hum Mol Genet 2001;10:591-7.
22. Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR. ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res 2003;31:3568-71.
23. Jacoby LB, MacCollin M, Barone R, Ramesh V, Gusella JF. Frequency and distribution of NF2 mutations in Schwannomas. Genes Chromosomes Cancer 1996;17:45-55.
24. Ikeda T, Hashimoto S, Fukushige S, Ohmori H, Horii A. Comparative genomic hybridization and mutation analyses of sporadic schwannomas. J Neurooncol 2005;72:225-30.
25. Irving RM, Harada T, Moffat DA, Hardy DG, Whittaker JL, Xuereb JH, Maher ER. Somatic neurofibromatosis type 2 gene mutations and growth characteristics in vestibular schwannoma. Am J Otol 1997;18:754- 60.
26. Tomlinson IP, Roylance R, Houlston RS. Two hits revisited again. J Med Genet 2001;38:88-5.
27. Kaufman DL, Heinrich BS, Willen C, Perry A, Finseth F, Sobel RA, MacCollin M. Somatic instability of the NF2 gene in schwannomatosis. Arch Neurol 2003;60:1317-20.
28. Mohyuddin A, Neary WJ, Wallace AJ, Purcell S, Wu C-L, Reid H, Ramsden RT, Read AP, Evans DGR. Molecular genetic exclusion of NF2 in young patients diagnosed with a unilateral vestibular schwannoma. J Med Genet 2002;39:315-22.
29. Sestini R, Bacci C, Provenzano A, Genuardi M, Papi L. Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas Hum Mutat 2007 Dec 10;[epub ahead of print].