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

(2007) Nature Genetics. 39(9). p.1120-1126
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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.

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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.
@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},
}

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