Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2

• DOI: 10.1038/363515a0
• Publication Date: 2003-08-12T00:29:15Z
• Authors: Guy A. Rouleau; Philippe Merel; Mohini Lutchman; Marc Sanson; Jessica Zucman; Claude Marineau; Khé Hoang-Xuan; Suzanne Demczuk; Chantal Desmaze; Béatrice Plougastel; Stefan M. Pulst; Gilbert Lenoir; Emilia Bijlsma; Raimund Fashold; Jan Dumanski; Pieter de Jong; Dilys Parry; Roswell Eldrige; Alain Aurias; Olivier Delattre; Gilles Thomas
• Keywords: 0301 basic medicine; Neurofibromin 2; Base Sequence; Chromosomes, Human, Pair 22; Molecular Sequence Data; Membrane Proteins; DNA, Neoplasm; Hybrid Cells; Cell Line; Neoplasm Proteins; 3. Good health; Mice; 03 medical and health sciences; Germ Cells; Genes, Neurofibromatosis 2; Mutation; Animals; Humans; Point Mutation; Amino Acid Sequence; Chromosome Deletion; Cloning, Molecular; HeLa Cells

Neurofibromatosis type 2 (NF2) is a monogenic dominantly inherited disease predisposing carriers to develop nervous system tumours. To identify the genetic defect, the region between two flanking polymorphic markers on chromosome 22 was cloned and several genes identified. One is the site of germ-line mutations in NF2 patients and of somatic mutations in NF2-related tumours. Its deduced product has homology with proteins at the plasma membrane and cytoskeleton interface, a previously unknown site of action of tumour suppressor genes in humans.