A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis

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

Ethical Statement

This article does not contain any studies with human or animal subjects performed by any of the authors.

Publikationsverlauf

Eingereicht: 31. Januar 2020

Angenommen: 23. März 2020

Artikel online veröffentlicht:
25. April 2020

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