Related Experiment Video
Updated: Jun 5, 2025
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Craniosynostosis-4 with Heterozygous Mutation in the ERF Gene: A Case Report
Ragavandran Ranganathan1, Sharada Reddy Jampanapalli1, Divya Barathi2
1Department of Pedodontics and Preventive Dentistry, Govt. Dental College & Hospital, Hyderabad, Telangana, India.
Insights
Craniosynostosis-4, a genetic condition caused by an ERF gene mutation, affects skull growth and presents with dental issues. Early dental interventions are crucial for managing complications in affected children.
Area of Science:
- Genetics
- Pediatric Dentistry
- Craniofacial Abnormalities
Background:
- Craniosynostosis (CS) is the premature fusion of cranial sutures, leading to abnormal head shape and potential brain growth restriction.
- It affects 1 in 2,000-2,500 children and can be syndromic or nonsyndromic, with sagittal suture involvement being most common.
- CS can result from genetic mutations or secondary factors during pregnancy.
Background:
Craniosynostosis (CS) is defined as the premature fusion of cranial sutures and can be classified as nonsyndromic or syndromic and by which sutures are affected. It affects 1 in 2,000-2,500 children. The most common clinical feature in CS is an abnormal head shape. This is a consequence of the growth of the underlying brain and restriction of skull growth due to premature ossification of skull sutures. It may primarily occur due to genetic mutations or secondarily due to mechanical, environmental, and hormonal factors during pregnancy. The most frequently involved single suture is the sagittal suture, followed by the coronal, metopic, and lambdoid sutures, or multiple sutures.
Case Description:
An 8-year-old girl with second-degree consanguinity and several signs of CS is reported. A deoxyribonucleic acid (DNA) test report revealed an ERF gene mutation located on exon 4, concluding the diagnosis of craniosynostosis-4 with genetic heterogeneity. Intraoral examination revealed multiple unerupted teeth, dental caries, and deep pits and fissures.
Intervention:
Adhesive restorations of carious teeth, pulp capping of 75, and fissure sealing of 46 were done. Extraction of 71 and root stumps of 54 were followed by band and loop space maintainer. In the recall visit after 6 months, 22, 24, and 32 were seen erupted into the oral cavity.
Clinical Significance:
Most genetically determined CS is characterized by autosomal dominant inheritance, but about half of cases are accounted for new mutations. Mutations in the ERF gene, coding for ETS2 repressor factor, a member of the ETS family of transcription factors, cause a recently recognized form of craniosynostosis (CRS4) with facial dysmorphism, increased intracranial pressure, Chiari-1 malformation, speech and language delay, and behavioral problems. The overall prevalence of ERF mutations in patients with syndromic CS is around 2%, whereas it is 0.7% in clinically nonsyndromic CS.
How To Cite This Article:
Ranganathan R, Jampanapalli SR, Barathi D. Craniosynostosis-4 with Heterozygous Mutation in the ERF Gene: A Case Report. Int J Clin Pediatr Dent 2024;17(10):1163-1167.
More Related Videos
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
10:23Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
Published on: September 8, 2023
Related Concept Videos
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:33Pleiotropy