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 Delattre; Gilles Thomas

doi:10.1038/363515a0

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

Division of Rheumatology

Research output: Contribution to journal › Article › peer-review

1285 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 language	English
Pages (from-to)	515-521
Number of pages	7
Journal	Nature
Volume	363
Issue number	6429
DOIs	https://doi.org/10.1038/363515a0
State	Published - 1993

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Rouleau, G. A., Merel, P., Lutchman, M., Sanson, M., Zucman, J., Marineau, C., Hoang-Xuan, K., Demczuk, S., Desmaze, C., Plougastel, B., Pulst, S. M., Lenoir, G., Bijlsma, E., Fashold, R., Dumanski, J., Jong, P. D., Parry, D., Eldrige, R., Aurias, A., ... Thomas, G. (1993). Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature, 363(6429), 515-521. https://doi.org/10.1038/363515a0

@article{8230475a8c584bb4b76145ceafd53643,

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

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.",

author = "Rouleau, {Guy A.} and Philippe Merel and Mohini Lutchman and Marc Sanson and Jessica Zucman and Claude Marineau and Kh{\'e} Hoang-Xuan and Suzanne Demczuk and Chantal Desmaze and B{\'e}atrice Plougastel and Pulst, {Stefan M.} and Gilbert Lenoir and Emilia Bijlsma and Raimund Fashold and Jan Dumanski and Jong, {Pieter De} and Dilys Parry and Roswell Eldrige and Alain Aurias and Olivier Delattre and Gilles Thomas",

year = "1993",

doi = "10.1038/363515a0",

language = "English",

volume = "363",

pages = "515--521",

journal = "Nature",

issn = "0028-0836",

number = "6429",

}

Rouleau, GA, Merel, P, Lutchman, M, Sanson, M, Zucman, J, Marineau, C, Hoang-Xuan, K, Demczuk, S, Desmaze, C, Plougastel, B, Pulst, SM, Lenoir, G, Bijlsma, E, Fashold, R, Dumanski, J, Jong, PD, Parry, D, Eldrige, R, Aurias, A, Delattre, O & Thomas, G 1993, 'Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2', Nature, vol. 363, no. 6429, pp. 515-521. https://doi.org/10.1038/363515a0

TY - JOUR

T1 - Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2

AU - Rouleau, Guy A.

AU - Merel, Philippe

AU - Lutchman, Mohini

AU - Sanson, Marc

AU - Zucman, Jessica

AU - Marineau, Claude

AU - Hoang-Xuan, Khé

AU - Demczuk, Suzanne

AU - Desmaze, Chantal

AU - Plougastel, Béatrice

AU - Pulst, Stefan M.

AU - Lenoir, Gilbert

AU - Bijlsma, Emilia

AU - Fashold, Raimund

AU - Dumanski, Jan

AU - Jong, Pieter De

AU - Parry, Dilys

AU - Eldrige, Roswell

AU - Aurias, Alain

AU - Delattre, Olivier

AU - Thomas, Gilles

PY - 1993

Y1 - 1993

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0027245423&partnerID=8YFLogxK

U2 - 10.1038/363515a0

DO - 10.1038/363515a0

M3 - Article

C2 - 8379998

AN - SCOPUS:0027245423

SN - 0028-0836

VL - 363

SP - 515

EP - 521

JO - Nature

JF - Nature

IS - 6429

ER -

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

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