Abstract
De novo heterozygous mutations in the KAT6A gene give rise to a distinct intellectual disability syndrome, with features including
speech delay, cardiac anomalies, craniofacial dysmorphisms, and craniosynostosis.
Here, we reported a 16-year-old girl with a novel pathogenic variant of the KAT6A gene. She is the first case to possess pancraniosynostosis, a rare suture fusion
pattern, affecting all her major cranial sutures. The diagnosis of KAT6A syndrome
is established via recognition of its inherent phenotypic features and the utilization
of whole exome sequencing. Thorough craniofacial evaluation is imperative, craniosynostosis
may require operative intervention, the delay of which may be detrimental.
Keywords
KAT6A syndrome - whole exome sequencing - pancraniosynostosis
