Title: Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype
Authors: Brems, Hilde
Chmara, Magdalena
Sahbatou, Mourad
Denayer, Ellen
Taniguchi, Koji
Kato, Reiko
Somers, Riet
Messiaen, Ludwine
De Schepper, Sofie
Fryns, Jean-Pierre
Cools, Jan
Marynen, Peter
Thomas, Gilles
Yoshimura, Akihiko
Legius, Eric # ×
Issue Date: Sep-2007
Publisher: Nature America, Inc.
Series Title: Nature Genetics vol:39 issue:9 pages: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 of proteins that act as negative regulators of RAS->RAF interaction and mitogen-activated protein kinase (MAPK) signaling. The clinical features of the reported disorder resemble those of neurofibromatosis type 1 and consist of multiple café-au-lait spots, axillary freckling and macrocephaly. Melanocytes from a café-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 café-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. To our knowledge, this is the first report of mutations in the SPRY (SPROUTY)/SPRED family of genes in human disease.
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Molecular Genetics Section (-)
Department of Human Genetics - miscellaneous
Laboratory for Neurofibromatosis Research
× corresponding author
# (joint) last author

Files in This Item:
File Description Status SizeFormat
spred1.pdf Published 314KbAdobe PDFView/Open


All items in Lirias are protected by copyright, with all rights reserved.

© Web of science