Early onset Arboleda-Tham syndrome due to KAT6A variants: Case report
This report highlights the critical role of genomic sequencing in the diagnostic evaluation of neonates with unexplained cardiac arrhythmias or seizures. WES should be considered in neonates exhibiting severe early-onset multisystem involvement and dysmorphic features to investigate potential <i>KAT6A</i> variants. These findings substantially expand the phenotypic spectrum of ARTHS by documenting severe neonatal manifestations and contribute to a deeper understanding of KAT6A-related phenotypic variability.
Authors
- Shanling Liu (ORCID: https://orcid.org/0000-0001-8788-7991)
- Hanmin Liu (ORCID: https://orcid.org/0000-0002-4633-911X)
- Hongbo Chen (ORCID: https://orcid.org/0000-0001-9922-4351)
- Dan Yu (ORCID: https://orcid.org/0000-0003-0321-4760)
- Lina Qiao (ORCID: https://orcid.org/0000-0002-3776-9775)
- Hanbing Xie
- Weiran Li
Institutions
- Sichuan University (CN)
- Fudan University (CN)
- West China Second University Hospital of Sichuan University (CN)
- Maternal and Child Health Hospital of Sichuan Province (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-12-08
- DOI
- https://doi.org/10.3389/fgene.2025.1704725
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00