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Article

Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1 -related RASopathy.

American journal of medical genetics. Part A - 1 Jan 2025

Grange Dorothy K, Wegner Daniel J, Wambach Jennifer A, Sisco Kathleen A, Stone Stephen I, Sheehan Jonathan H, Ramsey Keri M, Narayanan Vinodh, Rauen Katherine A, Cole F Sessions

Abstract excerpt

We report three unrelated individuals with atypical clinical findings for cardio-facio-cutaneous (CFC) syndrome, all of whom have the same novel, heterozygous de novo p.H119Y (c.355 C>T) transition variant in MAP2K1, identified by exome sequencing. MAP2K1 encodes MEK1, dual specificity mitogen-activated protein kinase kinase 1, and is one of four genes in the canonical RAS/MAPK signal transduction pathway...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39166407
DOI: 10.1002/ajmg.a.63854
PMCID: PMC12358058

Genes

MAP2K1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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