Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

doi:10.1038/s41431-024-01642-7

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Article

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

European journal of human genetics : EJHG - 1 Aug 2024

Dentici Maria Lisa, Niceta Marcello, Lepri Francesca Romana, Mancini Cecilia, Priolo Manuela, Bonnard Adeline Alice, Cappelletti Camilla, Leoni Chiara, Ciolfi Andrea, Pizzi Simone, Cordeddu Viviana, Rossi Cesare, Ferilli Marco, Mucciolo Mafalda, Colona Vito Luigi, Fauth Christine, Bellini Melissa, Biasucci Giacomo, Sinibaldi Lorenzo, Briuglia Silvana, Gazzin Andrea, Carli Diana, Memo Luigi, Trevisson Eva, Schiavariello Concetta, Luca Maria, Novelli Antonio, Michot Caroline, Sweertvaegher Anne, Germanaud David, Scarano Emanuela, De Luca Alessandro, Zampino Giuseppe, Zenker Martin, Mussa Alessandro, Dallapiccola Bruno, Cavé Helene, Digilio Maria Cristina, Tartaglia Marco

Abstract excerpt

Pathogenic, largely truncating variants in the ETS2 repressor factor (ERF) gene, encoding a transcriptional regulator negatively controlling RAS-MAPK signaling, have been associated with syndromic craniosynostosis involving various cranial sutures and Chitayat syndrome, an ultrarare condition with respiratory distress, skeletal anomalies, and facial dysmorphism. Recently, a single patient with craniosynostosis...

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Identifiers

PMID: 38824261
DOI: 10.1038/s41431-024-01642-7
PMCID: PMC11291927

Genes

ERF
ETS2

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