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Title: Mutational analysis of patients with neurofibromatosis 2

Neurofibromatosis 2 (NF2) is a genetic disorder characterized by the development of multiple nervous-system tumors in young adulthood. The NF2 gene has recently been isolated and found to encode a new member, merlin, of the protein 4.1 family of cytoskeleton-associated proteins. To define the molecular basis of NF2 in affected individuals, the authors have used SSCP analysis to scan the exons of the NF2 gene from 33 unrelated patients with NF2. Twenty unique SSCP variants were seen in 21 patients; 10 of these individuals were known to be the only affected person in their kindred, while 7 had at least one other known affected relative. In all cases in which family members were available, the SSCP variant segregated with the disease; comparison of sporadic cases with their parents confirmed the de novo variants. DNA sequence analysis revealed that 19 of the 20 variants observed are predicted to lead to a truncated protein due to frameshift, creation of a stop codon, or interference with normal RNA splicing. A single patient carried a 3-bp deletion removing a phenylalanine residue. The authors conclude that the majority of NF2 patients carry an inactivating mutation of the NF2 gene and that neutral polymorphism in themore » gene is rare. 18 refs., 3 figs., 2 tabs.« less
Authors:
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  1. (and others)
Publication Date:
OSTI Identifier:
6872363
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Human Genetics; (United States); Journal Volume: 55:2
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; ANIMAL CELLS; SKELETON; NERVOUS SYSTEM; NEOPLASMS; DNA SEQUENCING; GENE MUTATIONS; BODY; DISEASES; MUTATIONS; ORGANS; STRUCTURAL CHEMICAL ANALYSIS 550400* -- Genetics