International Journal of Clinical Pediatric Dentistry

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VOLUME 17 , ISSUE 10 ( October, 2024 ) > List of Articles

CASE REPORT

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

Ragavandran Ranganathan, Sharada Reddy Jampanapalli, Divya Barathi

Keywords : Case report, Craniosynostosis-4, ERF gene, Mutation, Syndrome

Citation Information : 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.

DOI: 10.5005/jp-journals-10005-2959

License: CC BY-NC 4.0

Published Online: 27-11-2024

Copyright Statement:  Copyright © 2024; The Author(s).


Abstract

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.


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  1. Nelson WE, Behrman RE, Kliegman RM, et al. Textbook of Pediatrics, 15th edition. Bone and Joint Disorders. Saunders; 1996. pp. 1915–1962.
  2. Senarath-Yapa K, Chung MT, McArdle A, et al. Craniosynostosis: molecular pathways and future pharmacologic therapy. Organogenesis 2012;8(4):103–113.
  3. Stewart RE, Barber TK, Troutman KC, et al. Pediatric Dentistry: Scientific Foundations and Clinical Practice. Mosby; 1982. pp. 33–71.
  4. Virchow R. Berh Phyd Med Gesellsch, vol. 2. Wuerzburg; 1851. pp. 231–271.
  5. Shruthi NM, Gulati S. Craniosynostosis: a pediatric neurologist's perspective. J Pediatr Neurosci 2022;17(1):54–60.
  6. Alghamdi M, Alhumsi TR, Altweijri I, et al. Clinical and genetic characterization of craniosynostosis in Saudi Arabia. Front Pediatr 2021;9:1–14.
  7. Moss ML. The pathogenesis of premature cranial synostosis in man. Acta Anat 1959;37:351–370.
  8. Kajdic N, Spazzapan P, Velnar T. Craniosynostosis—recognition, clinical characteristics, and treatment. Bosn J Basic Med Sci 2018;18(2):110–116.
  9. Chai Y, Maxson RE Jr. Recent advances in craniofacial morphogenesis. Dev Dyn 2006;235(9):2353–2375.
  10. Twigg SR, Vorgia E, McGowan SJ, et al. Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. Nat Genet 2013;45(3):308–313.
  11. Kapp-Simon KA, Speltz ML, Cunningham ML, et al. Neurodevelopment of children with single suture craniosynostosis: a review. Childs Nerv Syst 2007;23:269–281.
  12. Speltz ML, Collett BR, Wallace ER, et al. Intellectual and academic functioning of school-age children with single-suture craniosynostosis. Pediatrics 2015;135(3):e615–e623.
  13. Malde O, Cross C, Lim CL, et al. Predicting calvarial morphology in sagittal craniosynostosis. Sci Rep 2020;10:3.
  14. Burokas L. Craniosynostosis: caring for infants and their families. Crit Care Nurse 2013;33(4):39–50.
  15. Esmaeli A, Nejat F, Habibi Z, et al. Secondary bicoronal synostosis after metopic craniosynostosis surgical reconstruction. J Pediatr Neurosci 2014;9(3):242–245.
  16. Von Kriegsheim A, Baiocchi D, Birtwistle M, et al. Cell fate decisions are specified by the dynamic ERK interactome. Nat Cell Biol 2009;11:1458–1464.
  17. Cooper GM, Curry C, Barbano TE, et al. Noggin inhibits postoperative resynostosis in craniosynostotic rabbits. J Bone Miner Res 2007;22:1046–1054.
  18. Cooper GM, Usas A, Olshanski A, et al. Ex vivo Noggin gene therapy inhibits bone formation in a mouse model of postoperative resynostosis. Plast Reconstr Surg 2009;123:94S–103S.
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