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DOI: 10.1055/s-0040-1710330
A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis
Funding None.![](https://www.thieme-connect.de/media/10.1055-s-00029027/202101/lookinside/thumbnails/10-1055-s-0040-1710330_2000013-1.jpg)
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.
Ethical Statement
This article does not contain any studies with human or animal subjects performed by any of the authors.
Publication History
Received: 31 January 2020
Accepted: 23 March 2020
Article published online:
25 April 2020
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