Open AccessA Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis
Author(s) -
Fady P. Marji,
Jennifer Hall,
Erin Anstadt,
Suneeta MadanKhetarpal,
Jesse A. Goldstein,
Joseph E. Losee
Publication year - 2020
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0040-1710330
Subject(s) - craniosynostosis , exome sequencing , frameshift mutation , craniofacial , mutation , genetics , craniosynostoses , phenotype , craniofacial abnormality , medicine , biology , gene , computational biology , bioinformatics
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.