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J Pediatr Genet 2021; 10(01): 081-084
DOI: 10.1055/s-0040-1710330
Case Report

A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis

Fady P. Marji 
1   Department of Plastic Surgery and Reconstructive Surgery, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States
,
Jennifer A. Hall
1   Department of Plastic Surgery and Reconstructive Surgery, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States
,
Erin Anstadt
1   Department of Plastic Surgery and Reconstructive Surgery, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States
,
Suneeta Madan-Khetarpal
2   Department of Genetics, Center for Clinical Genetics and Genomics, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States
,
Jesse A. Goldstein
1   Department of Plastic Surgery and Reconstructive Surgery, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States
,
Joseph E. Losee
1   Department of Plastic Surgery and Reconstructive Surgery, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States
› Author Affiliations Funding None.
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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.




Publication History

Received: 31 January 2020

Accepted: 23 March 2020

Article published online:
25 April 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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