Novel heterozygous ASH1L nonsense variant involved in mild intellectual disability.

IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Frontiers in Neurology Pub Date : 2025-01-20 eCollection Date: 2025-01-01 DOI:10.3389/fneur.2025.1524532
Baoqiong Liao, Wuming Xie, Shuwen He
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Abstract

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 patient diagnosed with mild ID, and whole-exome sequencing (WES) of the family identified a novel heterozygous nonsense variant, NM_018489.2: c.2479A > T (p.Lys827*), located in exon 3 of ASH1L, which was predicted to be pathogenic. The nonsense variant in the mild ID patient may disrupt ASH1L function by destabilizing its spatial conformation, leading to decreased activity of the catalytic H3K36 methylation, thereby affecting neurological function. A review of reported ASH1L nonsense mutations to explore genotype-phenotype correlations suggested that these variants typically result in a loss of function. Our findings contribute to understanding the neurodevelopmental pathogenesis of mild ID in patients with the ASH1L nonsense variant mutation.

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来源期刊
Frontiers in Neurology
Frontiers in Neurology CLINICAL NEUROLOGYNEUROSCIENCES -NEUROSCIENCES
CiteScore
4.90
自引率
8.80%
发文量
2792
审稿时长
14 weeks
期刊介绍: The section Stroke aims to quickly and accurately publish important experimental, translational and clinical studies, and reviews that contribute to the knowledge of stroke, its causes, manifestations, diagnosis, and management.
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