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First case of pan-suture craniosynostosis due to de novo mosaic KAT6A mutation.

Nisha KorakaviCaleb P BuppBethany GryskoJane JuusolaChelsea BortaCasey Madura
Published in: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery (2021)
A nonverbal 3-year-old male with a complex past medical history was referred to pediatric neurosurgery for evaluation of Chiari I malformation. A full clinical evaluation suggested that the "Chiari" was a secondary change caused by craniocerebral disproportion that was the result of delayed pan-sutural craniosynostosis. Given his unknown cause of craniosynostosis, whole-exome sequencing (WES) was performed. WES revealed a de novo, somatic mosaic variant in the KAT6A gene. This report discusses importance of keeping a broad differential in the setting of referral for Chiari I malformation and presents a unique case of craniosynostosis. Additionally, it emphasizes the value of utilizing genetic testing for complex craniofacial cases with unknown causes to provide clinical answers and guide clinical management.
Keyphrases
  • clinical evaluation
  • copy number
  • healthcare
  • primary care
  • genome wide
  • transcription factor
  • gene expression