Further genotype - phenotype correlations in neurofibromatosis 2

Clinical Genetics

Volumn 77, Issue 2, 2010, Pages 163-170

  Selvanathan, S K ^a   Shenton, A ^a   Ferner, R ^b   Wallace, A J ^a   Huson, S M ^a   Ramsden, R T ^c   Evans, D G ^a  

^a ST MARY S HOSPITAL   (United Kingdom)

^b GUY S HOSPITAL   (United Kingdom)

^c MANCHESTER ROYAL INFIRMARY   (United Kingdom)

Author keywords

Frameshift mutations; Genotype; Large deletions; Neurofibromatosis 2; Nonsense mutations; Phenotype

Indexed keywords

MERLIN;

ADULT; AGE DISTRIBUTION; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CRANIAL NERVE TUMOR; DISEASE SEVERITY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEARING LOSS; HUMAN; MAJOR CLINICAL STUDY; MALE; MENINGIOMA; NEURILEMOMA; NEUROFIBROMATOSIS; NONSENSE MUTATION; ONSET AGE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SKIN DEFECT; SPINAL CORD TUMOR; TINNITUS;

ADOLESCENT; ADULT; FEMALE; GENES, NEUROFIBROMATOSIS 2; GENETIC ASSOCIATION STUDIES; GENETIC MARKERS; GENOTYPE; HUMANS; MALE; MUTATION; NEUROFIBROMATOSIS 2; PHENOTYPE;

EID: 73949130301     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01315.x     Document Type: Article

References (28)

1. Rouleau GA, Merel P, Lutchman M. Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature 1993, 363(6429):515-521.
2. Trofatter JA, MacCollin MM, Rutter JL. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 1993, 72(5):791-800.
3. Evans DG, Huson SM, Donnai D. A genetic study of type 2 neurofibromatosis in the United Kingdom. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. J Med Genet 1992, 29(12):841-846.
4. Baser ME, Makariou EV, Parry DM. Predictors of vestibular schwannoma growth in patients with neurofibromatosis Type 2. J Neurosurg 2002, 96(2):217-222.
5. Ruttledge MH, Andermann AA, Phelan CM. Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet 1996, 59(2):331-342.
6. Mautner VF, Baser ME, Thakkar SD, Feigen UM, Friedman JM, Kluwe L. Vestibular schwannoma growth in patients with neurofibromatosis Type 2: a longitudinal study. J Neurosurg 2002, 96(2):223-228.
7. Otsuka G, Saito K, Nagatani T, Yoshida J. Age at symptom onset and long-term survival in patients with neurofibromatosis Type 2. J Neurosurg 2003, 99(3):480-483.
8. Evans DG, Trueman L, Wallace A, Collins S, Strachan T. Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations. J Med Genet 1998, 35(6):450-455.
9. Baser ME. Contributors to the International NF2 Mutation Database. The distribution of constitutional and somatic mutations in the neurofibromatosis 2 gene. Hum Mutat 2006, 27(4):297-306.
10. Baser ME, Kuramoto L, Joe H. Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study. Am J Hum Genet 2004, 75(2):231-239.
11. Kluwe L, Pulst SM, Köppen J, Mautner VF. A 163-bp deletion in the neurofibromatosis 2 (NF2) gene associated with variant phenotype. Hum Genet 1995, 95(4):443-446.
12. Gutmann DH, Geist RT, Xu H, Kim JS, Saporito-Irwin S. Defects in neurofibromatosis 2 protein function can arise at multiple levels. Hum Mol Genet 1998, 7(3):335-345.
13. Mérel P, Hoang-Xuan K, Sanson M. Screening for germ-line mutations in the NF2 gene. Genes Chromosomes Cancer 1995, 12(2):117-127.
14. Kluwe L, Bayer S, Baser ME. Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes. Hum Genet 1996, 98(5):534-538.
15. Parry DM, MacCollin MM, Kaiser-Kupfer MI. Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. Am J Hum Genet 1996, 59(3):529-539.
16. Evans DG, Wallace AJ, Wu CL, Trueman L, Ramsden RT, Strachan T. Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis. Am J Hum Genet 1998, 63(3):727-736.
17. Kluwe L, Mautner VF. Mosaicism in sporadic neurofibromatosis 2 patients. Hum Mol Genet 1998, 7(13):2051-2055.
18. Bourn D, Carter SA, Evans DG, Goodship J, Coakham H, Strachan T. A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals. Am J Hum Genet 1994, 55(1):69-73.
19. Evans DGR, Ramsden RT, Shenton A. Mosaicism in NF2 an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including MLPA. J Med Genet 2007, 44(7):424-428.
20. Parry DM, Eldridge R, Kaiser-Kupfer MI, Bouzas EA, Pikus A, Patronas N. Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet 1994, 52(4):450-456.
21. Baser ME, R Evans DG, Gutmann DH. Neurofibromatosis 2. Curr Opin Neurol 2003, 16(1):27-33.
22. Zhao Y, Kumar RA, Baser ME. Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2). Genet Epidemiol 2002, 23(3):245-259.
23. Baser ME, Kuramoto L, Woods R. The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2. J Med Genet 2005, 42(7):540-546.
24. Mautner VF, Tatagiba M, Lindenau M. Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety. Am J Roentgenol 1995, 165(4):951-955.
25. Patronas NJ, Courcoutsakis N, Bromley CM, Katzman GL, MacCollin M, Parry DM. Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype. Radiology 2001, 218(2):434-442.
26. Dow G, Biggs N, Evans G, Gillespie J, Ramsden R, King A. Spinal tumors in neurofibromatosis type 2. Is emerging knowledge of genotype predictive of natural history. J Neurosurg Spine 2005, 2(5):574-579.
27. Mautner VF, Lindenau M, Baser ME, Kluwe L, Gottschalk J. Skin abnormalities in neurofibromatosis 2. Arch Dermatol 1997, 133(12):1539-1543.
28. Baser ME, Ragge NK, Riccardi VM, Janus T, Gantz B, Pulst SM. Phenotypic variability in monozygotic twins with neurofibromatosis 2. Am J Med Genet 1996, 64(4):563-567.