ALTERATION IN A NEW GENE ENCODING A PUTATIVE MEMBRANE-ORGANIZING PROTEIN CAUSES NEUROFIBROMATOSIS TYPE-2

Authors
ROULEAU GA MEREL P LUTCHMAN M SANSON M ZUCMAN J MARINEAU C HOANGXUAN K DEMCZUK S DESMAZE C PLOUGASTEL B PULST SM LENOIR G BIJLSMA E FASHOLD R DUMANSKI J DEJONG P PARRY D ELDRIGE R AURIAS A DELATTRE O THOMAS G
Citation
Ga. Rouleau et al., ALTERATION IN A NEW GENE ENCODING A PUTATIVE MEMBRANE-ORGANIZING PROTEIN CAUSES NEUROFIBROMATOSIS TYPE-2, Nature, 363(6429), 1993, pp. 515-521
Citations number
43
Categorie Soggetti
Multidisciplinary Sciences
Journal title
Nature → ACNP
ISSN journal
00280836
Volume
363
Issue
6429
Year of publication
1993
Pages
515 - 521
Database
ISI
SICI code
0028-0836(1993)363:6429<515:AIANGE>2.0.ZU;2-Q
Abstract
Neurofibromatosis type 2 (NF2) is a monogenic dominantly inherited dis ease predisposing carriers to develop nervous system tumours. To ident ify the genetic defect, the region between two flanking polymorphic ma rkers on chromosome 22 was cloned and several genes identified. One is the site of germ-line mutations in NF2 patients and of somatic mutati ons in NF2-related tumours. Its deduced product has homology with prot eins at the plasma membrane and cytoskeleton interface, a previously u nknown site of action of tumour suppressor genes in humans.