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Article

Family with Legius syndrome (neurofibromatosis type 1-like syndrome).

The Journal of dermatology - 1 Jul 2015

Sakai Noriyasu, Maeda Tatsuro, Kawakami Hiroshi, Uchiyama Masaki, Harada Kazutoshi, Tsuboi Ryoji, Mitsuhashi Yoshihiko

Abstract excerpt

Legius syndrome (Online Mendelian Inheritance in Man no. 611431) or neurofibromatosis type 1 (NF1)-like syndrome was first reported by Legius et al. in 2007. We herein report the first instance of Legius syndrome occurring in two female siblings in Japan. Both individuals presented cafe-au-lait macules and freckling. Mutation analysis revealed a mutation of c.349C>T resulting in p.Arg117* in the SPRED1 gene as...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25981987
DOI: 10.1111/1346-8138.12862

Genes

SPRED1

Variants

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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Epilepsy in Legius syndrome: Coincidence or causation?Semantic proximity Read ↗

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous DisordersSemantic proximity Read ↗

Legius syndrome in fourteen families.Semantic proximity Read ↗

Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.Semantic proximity Read ↗

SPRED 1 mutations in a neurofibromatosis clinic.Semantic proximity Read ↗

Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).Semantic proximity Read ↗

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