Abstract
We have analyzed cDNA from a 46-year-old atypical neurofibromatosis type 2 (NF2) patient who had lumbar tumors, cataract and schwannomas of peripheral nerves but no vestibular schwannomas, and have identified a 163-bp deletion in the NF2 transcript. The deletion is predicted to remove 54, alter 15 and add four extra amino acids at the C-terminus of the NF2-gene product. The same deletion was found in her two daughters and in a 3-year-old grandson. Bilateral vestibular schwannomas were detected in the two asymptomatic daughters, whereas no abnormality was found in the grandson.
References
Bianci AB, Hara T, Ramesh V, Gao J, Klein-Szanto AJP, Morin F, Menon AG, Trofatter JA, Gusella JF, Seizinger BR, Kley N (1994) Mutation in transcript isomorms of the neurofibromatosis 2 gene in multiple human tumor types. Nature Genet 6: 185–192
Bourn D, Carter SA, Maston S, Evans DGR, Strachan T (1994) Germline mutations in the neurofibromatosis type 2 tumour suppressor gene. Hum Mol Genet 3:813–816
Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156–159
Evans DG, Huson SM, Donnai D, Neary W, Blair V, Newton V, Harris R (1992) A clinical study of type 2 neurofibromatosis. QJ Med 84:603–618
Marineau C, Baron C, Delattre O, Zucman J, Thomas G, Rouleau GA (1993) Dinucleotide repeat polymorphism at the D22S268 locus. Hum Mol Genet 2:336
Mautner VF, Tatagiba M, Guthoff R, Samii M, Pulst SM (1993) Neurofibromatosis 2 in a pediatric age group. Neurosurgery 33:92–96
National Institutes of Health (1988) National Institutes of Health Consensus Development Conference. Neurofibromatosis. Conference Statement. Arch Neurol 45:575–580
Rouleau GA, Merel P, Lutchman M, Sanson M, Zucman J, Marineau C, Hoang-Xuan K, Demczuk S, Desmaze C, Plougastel B, Pulst SM, Lenoir G, Bijlsma E, Fahsold R, Dumanski J, Jong P de, Parry D, Eldrige R, Aurias A, Delattre O, Thomas G (1993) Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2. Nature 363:515–521
Ruttledge MH, Sarrazin J, Rangararnam S, Phelan CM, Twist E, Merel P, Delattre O, Thomas G, Nordenskjöld M, Collins VP, Dumanski JP, Rouleau GA (1994) Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas. Nature Genet 6: 180–184
Sainz J, Nechiporuk A, Kim UJ, Simon MI, Pulst SM (1993) CA-repeat polymorphism at the D22S430 locus adjacent to NF2. Hum Mol Genet 2:2203
Sainz J, Huynh DP, Figueroa K, Ragge NK, Baser ME, Pulst SM (1994) Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas. Hum Mol Genet 3: 885–891
Trofatter JA, MacCollin MM, Rutter JL, Murrell JR, Duyao MP, Parry DM, Eldridge R, Kley N, Menon AG, Pulaski K, Haase VH, Ambrose CM, Munroe D, Bove C, Haines JL, Martuzy RL, MacDonald ME, Seiziger BR, Short MP, Buchler AJ, Gusella JF (1993) A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 72:791–800
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Kluwe, L., Pulst, S.M., Köppen, J. et al. A 163-bp deletion at the C-terminus of the schwannomin gene associated with variable phenotypes of neurofibromatosis type 2. Hum Genet 95, 443–446 (1995). https://doi.org/10.1007/BF00208973
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DOI: https://doi.org/10.1007/BF00208973