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

ABSTRACT: 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 and a phenotype resembling Noonan syndrome (NS), the most common disorder among the RASopathies, was reported to carry a de novo loss-of-function variant in ERF. Here, we clinically profile 26 individuals from 15 unrelated families carrying different germline heterozygous variants in ERF and showing a phenotype reminiscent of NS. The majority of subjects presented with a variable deg

SUBMITTER: Dentici ML 

PROVIDER: S-EPMC11291927 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature