Homozygous ASTN1 Nonsense Variant Linked to Epileptic Encephalopathy: A Detailed Report With Unique Clinical Presentation

Clin Genet. 2024 Dec 12. doi: 10.1111/cge.14674. Online ahead of print.

¹ Genetic Diseases Assessment Center, Memorial Health Group, Şişli Hospital, Turkey.
² Department of Pediatric Neurology, University of Health Sciences, Kartal Dr.Lütfi Kırdar City Hospital, Turkey.
³ Hamidiye International School of Medicine, University of Health Sciences, Turkey.
⁴ Department of Biostatistics and Medical Informatics, International School of Medicine, Istanbul Medipol University.
⁵ Department of Pediatric Radiology, University of Health Sciences, Kartal Dr.Lutfi Kirdar City Hospital, Turkey.

Abstract

Identification of a new pathogenic ASTN1 p.R517X (c.1549C>T) variant in a 7-month-old girl using gene sequencing methods and bioinformatics analysis.

Keywords: ASTN1 gene; epileptic encephalopathy; neurodevelopmental disorders; whole exome sequencing.