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Article

Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.

American journal of medical genetics. Part A - 1 Dec 2024

Chelleri Cristina, Brolatti Noemi, De Marco Patrizia, Ognibene Marzia, Diana Maria Cristina, Madia Francesca, Duca Marco Di, Santangelo Andrea, Capra Valeria, Striano Pasquale, Zara Federico, Scala Marcello

Abstract excerpt

Legius syndrome, commonly referred to as SPRED1-related neurofibromatosis type 1-like syndrome, is a rare autosomal dominant disorder characterized by café-au-lait macules, freckling, lipomas, macrocephaly, and heterogeneous neurodevelopmental manifestations, including a different degree of learning difficulties. Although a partial clinical overlap exists with neurofibromatosis type 1 (NF1), Legius syndrome is...

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Source

Identifiers

PMID: 39031930
DOI: 10.1002/ajmg.a.63824

Genes

SPRED1
NF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1Semantic proximity Read ↗

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