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

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 DelattreGilles Thomas

Research output: Contribution to journalArticlepeer-review

1110 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)515-521
Number of pages7
JournalNature
Volume363
Issue number6429
DOIs
StatePublished - Jan 1 1993
Externally publishedYes

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