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

@article{Brems2007GermlineLM,
  title={Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype},
  author={Hilde Brems and Magdalena Chmara and Mourad Sahbatou and Ellen Denayer and Koji Taniguchi and Reiko Kato and Riet Somers and Ludwine M Messiaen and Sofie De Schepper and J E Fryns and Jan Cools and Peter Marynen and Gilles Thomas and Akihiko Yoshimura and Eric Legius},
  journal={Nature Genetics},
  year={2007},
  volume={39},
  pages={1120-1126}
}
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… CONTINUE READING
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