Novel heterozygous ASH1L nonsense variant involved in mild intellectual disability

• Published in: Frontiers in neurology Vol. 16; p. 1524532
• Main Authors: Liao, Baoqiong, Xie, Wuming, He, Shuwen
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 2025
• Subjects: ASH1L; intellectual disability; Neurologi; Neurology; neuroscience; onsense mutation; WES - whole-exome sequencing; onsense mutation; ASH1L; neuroscience; intellectual disability; WES - whole-exome sequencing

Mutations in ASH1L have been associated with a range of phenotypes, including intellectual disability (ID), autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), seizures, as well as differences in skeletal, muscular, and sleep functions. In this study, we describe a patie...