Craniosynostosis-4 with Heterozygous Mutation in the ERF Gene: A Case Report.

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.