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Title: Screening for germline mutations in the neurofibromatosis type 2 (NF2) gene in NF2 patients

Abstract

Neurofibromatosis type 2 (NF2) is an autosomal dominant disease with over 95% penetrance which predisposes gene carriers to develop multiple tumors of the central nervous system. The NF2 gene is a putative tumor suppressor gene which was previously mapped to the long arm of chromosome 22, and has recently been identified, using positional cloning techniques. The gene encodes a protein, schwannomin (SCH), which is highly homologous to the band 4.1 protein family. In an attempt to identify and characterize mutations which lead to the manifestation of the disease, we have used single strand conformation analysis (SSCA) to screen for germline mutations in all 17 exons of the NF2 gene in 59 unrelated NF2 patients, representing both familial and new mutations. A total of 27 migration abnormalities was found in 26 patients. Using direct sequencing analysis, the majority of these variants were found to result in nonsense, splice-site or frameshift mutations. Mutations identified in familial NF2 patients segregate in the family, and may prove to be useful tools for a simple and direct SSCA-based technique of presymptomatic or prenatal diagnosis in relatives of patients with NF2. This may be of particular importance in children of patients who have new mutations inmore » the NF2 gene, where linkage analysis may not be feasible.« less

Authors:
; ;  [1]
  1. McGill Univ. and Montreal General Hospital Research Institute, Quebec (Canada) [and others
Publication Date:
OSTI Identifier:
134152
Report Number(s):
CONF-941009-
Journal ID: AJHGAG; ISSN 0002-9297; TRN: 95:005313-0888
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Human Genetics; Journal Volume: 55; Journal Issue: Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; PATIENTS; HEREDITARY DISEASES; NERVOUS SYSTEM DISEASES; HUMAN CHROMOSOME 22; GENETIC MAPPING; GENES; GENE MUTATIONS; SPLICING; DIAGNOSIS; PROTEINS; SCREENING; CENTRAL NERVOUS SYSTEM; NEOPLASMS; DNA-CLONING; DOMINANT MUTATIONS; DNA SEQUENCING

Citation Formats

Andermann, A.A., Ruttledge, M.H., and Rangaratnam, A.. Screening for germline mutations in the neurofibromatosis type 2 (NF2) gene in NF2 patients. United States: N. p., 1994. Web.
Andermann, A.A., Ruttledge, M.H., & Rangaratnam, A.. Screening for germline mutations in the neurofibromatosis type 2 (NF2) gene in NF2 patients. United States.
Andermann, A.A., Ruttledge, M.H., and Rangaratnam, A.. Thu . "Screening for germline mutations in the neurofibromatosis type 2 (NF2) gene in NF2 patients". United States.
@article{osti_134152,
title = {Screening for germline mutations in the neurofibromatosis type 2 (NF2) gene in NF2 patients},
author = {Andermann, A.A. and Ruttledge, M.H. and Rangaratnam, A.},
abstractNote = {Neurofibromatosis type 2 (NF2) is an autosomal dominant disease with over 95% penetrance which predisposes gene carriers to develop multiple tumors of the central nervous system. The NF2 gene is a putative tumor suppressor gene which was previously mapped to the long arm of chromosome 22, and has recently been identified, using positional cloning techniques. The gene encodes a protein, schwannomin (SCH), which is highly homologous to the band 4.1 protein family. In an attempt to identify and characterize mutations which lead to the manifestation of the disease, we have used single strand conformation analysis (SSCA) to screen for germline mutations in all 17 exons of the NF2 gene in 59 unrelated NF2 patients, representing both familial and new mutations. A total of 27 migration abnormalities was found in 26 patients. Using direct sequencing analysis, the majority of these variants were found to result in nonsense, splice-site or frameshift mutations. Mutations identified in familial NF2 patients segregate in the family, and may prove to be useful tools for a simple and direct SSCA-based technique of presymptomatic or prenatal diagnosis in relatives of patients with NF2. This may be of particular importance in children of patients who have new mutations in the NF2 gene, where linkage analysis may not be feasible.},
doi = {},
journal = {American Journal of Human Genetics},
number = Suppl.3,
volume = 55,
place = {United States},
year = {Thu Sep 01 00:00:00 EDT 1994},
month = {Thu Sep 01 00:00:00 EDT 1994}
}