ArticleBMC medical genetics2020
A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.
Article in BMC medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- Genetics versus environment in the pathophysiology of sagittal synostosis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Pooled it
- Management of secondary intracranial hypertension in untreated craniosynostosis: a case series and literature review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Review
- Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies.European journal of human genetics : EJHG · 2025Article
- Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis.Scientific reports · 2025Article
- Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.European journal of human genetics : EJHG · 2024Article
- Development of Erf-Mediated Craniosynostosis and Pharmacological Amelioration.International journal of molecular sciences · 2023Article
- ERF-related craniosynostosis and surgical management in the paediatric cohort.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2023Article
- Deletion ofCold Spring Harbor molecular case studies · 2021Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundERF-related craniosynostosis are a rare, complex, premature trisutural fusion associated with a broad spectrum of clinical features and heterogeneous aetiology. Here we describe two cases with the same pathogenic variant and a detailed description of their clinical course. CASE PRESENTATION: Two subjects; a boy with a BLSS requiring repeated skull expansions and his mother who had been operated once for sagittal synostosis. Both developed intracranial hypertension at some point during the course, which was for both verified by formal invasive intracranial pressure monitoring. Exome sequencing revealed a pathogenic truncating frame shift variant in the ERF gene.
conclusionsHere we describe a boy and his mother with different craniosynostosis patterns, but both with verified intracranial hypertension and heterozygosity for a truncating variant of ERF c.1201_1202delAA (p.Lys401Glufs*10). Our work provides supplementary evidence in support of previous phenotypic descriptions of ERF-related craniosynostosis, particularly late presentation, an evolving synostotic pattern and variable expressivity even among affected family members.
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Registered trials
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