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Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis-1 like phenotype

Hilde Brems, M Chmara, M Sahbatou, Ellen Denayer, K Taniguchi, R Kato, Riet Somers, Ludwine Messiaen, Sofie De Schepper UGent, Jean-Pierre Fryns, et al. (2007) Nature Genetics. 39(9). p.1120-1126
abstract
We report germline loss- of- function mutations in SPRED1 in a newly identified autosomal dominant human disorder. SPRED1 is a member of the SPROUTY/ SPRED family(1) of proteins that act as negative regulators of RAS- RAF interaction and mitogen-activated protein kinase ( MAPK) signaling(2). The clinical features of the reported disorder resemble those of neurofibromatosis type 1 and consist of multiple cafe - au- lait spots, axillary freckling and macrocephaly. Melanocytes from a cafe - au- lait spot showed, in addition to the germline SPRED1 mutation, an acquired somatic mutation in the wild- type SPRED1 allele, indicating that complete SPRED1 inactivation is needed to generate a cafe - au- lait spot in this syndrome. This disorder is yet another member of the recently characterized group of phenotypically overlapping syndromes caused by mutations in the genes encoding key components of the RAS- MAPK pathway(3,4). To our knowledge, this is the first report of mutations in the SPRY ( SPROUTY)/ SPRED family of genes in human disease.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
journal title
Nature Genetics
Nature Genet.
volume
39
issue
9
pages
1120 - 1126
Web of Science type
Article
Web of Science id
000249122400022
JCR category
GENETICS & HEREDITY
JCR impact factor
25.556 (2007)
JCR rank
1/130 (2007)
JCR quartile
1 (2007)
ISSN
1061-4036
DOI
10.1038/ng2113
language
English
UGent publication?
yes
classification
A1
id
689127
handle
http://hdl.handle.net/1854/LU-689127
date created
2009-06-10 17:18:46
date last changed
2016-12-19 15:46:36
@article{689127,
  abstract     = {We report germline loss- of- function mutations in SPRED1 in a newly identified autosomal dominant human disorder. SPRED1 is a member of the SPROUTY/ SPRED family(1) of proteins that act as negative regulators of RAS- RAF interaction and mitogen-activated protein kinase ( MAPK) signaling(2). The clinical features of the reported disorder resemble those of neurofibromatosis type 1 and consist of multiple cafe - au- lait spots, axillary freckling and macrocephaly. Melanocytes from a cafe - au- lait spot showed, in addition to the germline SPRED1 mutation, an acquired somatic mutation in the wild- type SPRED1 allele, indicating that complete SPRED1 inactivation is needed to generate a cafe - au- lait spot in this syndrome. This disorder is yet another member of the recently characterized group of phenotypically overlapping syndromes caused by mutations in the genes encoding key components of the RAS- MAPK pathway(3,4). To our knowledge, this is the first report of mutations in the SPRY ( SPROUTY)/ SPRED family of genes in human disease.},
  author       = {Brems, Hilde and Chmara, M and Sahbatou, M and Denayer, Ellen and Taniguchi, K and Kato, R and Somers, Riet and Messiaen, Ludwine and De Schepper, Sofie and Fryns, Jean-Pierre and Cools, Jan and Marynen, Peter and Thomas, Gilles and Yoshimura, A and Legius, E},
  issn         = {1061-4036},
  journal      = {Nature Genetics},
  language     = {eng},
  number       = {9},
  pages        = {1120--1126},
  title        = {Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis-1 like phenotype},
  url          = {http://dx.doi.org/10.1038/ng2113},
  volume       = {39},
  year         = {2007},
}

Chicago
Brems, Hilde, M Chmara, M Sahbatou, Ellen Denayer, K Taniguchi, R Kato, Riet Somers, et al. 2007. “Germline Loss-of-function Mutations in SPRED1 Cause a Neurofibromatosis-1 Like Phenotype.” Nature Genetics 39 (9): 1120–1126.
APA
Brems, Hilde, Chmara, M., Sahbatou, M., Denayer, E., Taniguchi, K., Kato, R., Somers, R., et al. (2007). Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis-1 like phenotype. Nature Genetics, 39(9), 1120–1126.
Vancouver
1.
Brems H, Chmara M, Sahbatou M, Denayer E, Taniguchi K, Kato R, et al. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis-1 like phenotype. Nature Genetics. 2007;39(9):1120–6.
MLA
Brems, Hilde, M Chmara, M Sahbatou, et al. “Germline Loss-of-function Mutations in SPRED1 Cause a Neurofibromatosis-1 Like Phenotype.” Nature Genetics 39.9 (2007): 1120–1126. Print.