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Article

Noonan syndrome-like phenotype in a patient with heterozygous ERF truncating variant.

Congenital anomalies - 1 Nov 2021

Yamada Mamiko, Funato Michinori, Kondo Goro, Suzuki Hisato, Uehara Tomoko, Takenouchi Toshiki, Sakamoto Yoshiaki, Kosaki Kenjiro

Abstract excerpt

Craniosynostosis is caused by abnormalities of multiple signaling pathways, including excessive RAS signaling. Recently, a truncating variant in ETS2 repressor factor (ERF), a negative transcriptional regulator of the RAS pathway, was shown to be associated with craniosynostosis. Here, we report a 10-year-old male patient with a heterozygous nonsense mutation, p.Arg183*, in ERF who exhibited craniosynostosis with...

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PMID: 34184330
DOI: 10.1111/cga.12435

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