ArticleAmerican journal of medical genetics. Part A2019
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.
Article in American journal of medical genetics. Part A, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 2 of them syntheses that pooled it.
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Who cites it
24 citing papers in PubMed, 2 syntheses or guidelines pooled it, 45 citations in OpenAlex.
- Prevalence of motor development delay in children with craniosynostosis: a systematic review and meta-analysis.European journal of pediatrics · 2026Pooled it
- The management of Chiari malformation type 1 and syringomyelia in children: a review of the literature.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Pooled it
- Clinical consensus guidelines for the management of Noonan syndrome in Japan.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Article
- Tetralogy of Fallot and craniosynostosis - differential manifestation in a familial case of CHDED syndrome caused by novel pathogenic PRKD1 variant.Journal of human genetics · 2026Article
- Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.American journal of human genetics · 2025Article
- 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 of the Zinc Finger Homeobox 4 (medRxiv : the preprint server for health sciences · 2024Article
- 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
- Review
- 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
- Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.Molecular psychiatry · 2023Article
- The clinical manifestations, molecular mechanisms and treatment of craniosynostosis.Disease models & mechanisms · 2022Review
- Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.Frontiers in molecular biosciences · 2022Article
- Craniovascular traits and braincase morphology in craniosynostotic human skulls.Journal of anatomy · 2021Article
- Erf Affects Commitment and Differentiation of Osteoprogenitor Cells in Cranial Sutures via the Retinoic Acid Pathway.Molecular and cellular biology · 2021Article
- Deletion ofCold Spring Harbor molecular case studies · 2021Article
- Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.Human genetics · 2021Article
- Article
Corrections and comments
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Authors and funding
21 authors at 10 institutions in 2 countries.
Funding
Abstract
Mutations in the ERF gene, coding for ETS2 repressor factor, a member of the ETS family of transcription factors cause a recently recognized syndromic form of craniosynostosis (CRS4) with facial dysmorphism, Chiari-1 malformation, speech and language delay, and learning difficulties and/or behavioral problems. The overall prevalence of ERF mutations in patients with syndromic craniosynostosis is around 2%, and 0.7% in clinically nonsyndromic craniosynostosis. Here, we present findings from 16 unrelated probands with ERF-related craniosynostosis, with additional data from 20 family members sharing the mutations. Most of the probands exhibited multisutural (including pan-) synostosis but a pattern involving the sagittal and lambdoid sutures (Mercedes-Benz pattern) predominated. Importantly the craniosynostosis was often postnatal in onset, insidious and progressive with subtle effects on head morphology resulting in a median age at presentation of 42 months among the probands and, in some instances, permanent visual impairment due to unsuspected raised intracranial pressure (ICP). Facial dysmorphism (exhibited by all of the probands and many of the affected relatives) took the form of orbital hypertelorism, mild exorbitism and malar hypoplasia resembling Crouzon syndrome but, importantly, a Class I occlusal relationship. Speech delay, poor gross and/or fine motor control, hyperactivity and poor concentration were common. Cranial vault surgery for raised ICP and/or Chiari-1 malformation was expected when multisutural synostosis was observed. Variable expressivity and nonpenetrance among genetically affected relatives was encountered. These observations form the most complete phenotypic and developmental profile of this recently identified craniosynostosis syndrome yet described and have important implications for surgical intervention and follow-up.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.