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Article

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

Nature genetics - 1 Sept 2007

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

Abstract excerpt

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,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17704776
DOI: 10.1038/ng2113

Genes

SPRED1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.PMID 17704776Read ↗

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