Neurological Disease Syndrome Caused by a STAG1 Gene Variant: A Case Report and Literature Review

IF 1.7 4区医学 Q3 DEVELOPMENTAL BIOLOGY

International Journal of Developmental Neuroscience Pub Date : 2025-07-08 DOI:10.1002/jdn.70030

Qi Zhang, Ying Ren, Song Su, Wandong Hu, Hongwei Zhang, Tong Zhang

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Abstract

Background

The cohesin complex is a multifunctional unit that plays a crucial role in DNA repair, replication, chromosome segregation, and gene expression. Dysfunctions in this complex can lead to a spectrum of developmental disorders collectively known as cohesinopathies.

Case

We retrospectively analysed the clinical data of a 2-year-old boy who was admitted to the hospital with seizures. Genetic testing identified a heterozygous de novo variant in STAG1 at the c.2549G > A (p.Gly850Asp) locus.

Methods

A comprehensive literature review was conducted to summarize previously reported STAG1 variants and their associated clinical features.

Conclusion

This study expands the molecular spectrum of STAG1 variants. This suggests that genetic testing is highly important, especially for neurodevelopmental disorders with unknown causes. It can facilitate early intervention and guide prenatal diagnosis and genetic counseling.

Abstract Image

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STAG1基因变异引起的神经系统疾病综合征1例报告及文献复习

内聚蛋白复合物是一种多功能的细胞，在DNA修复、复制、染色体分离和基因表达中起着至关重要的作用。这种复合体的功能障碍可导致一系列发育障碍，统称为内聚性疾病。我们回顾性分析了一名2岁男童因癫痫发作入院的临床资料。基因检测在STAG1的c.2549G > a （p.Gly850Asp）位点发现了一个杂合的新生变异。方法对以往报道的STAG1变异及其相关临床特征进行综述。结论本研究扩展了STAG1变异的分子谱。这表明基因检测非常重要，特别是对于原因不明的神经发育障碍。有助于早期干预，指导产前诊断和遗传咨询。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

International Journal of Developmental Neuroscience 医学-发育生物学

CiteScore

3.30

自引率

5.60%

发文量

审稿时长

6-12 weeks

期刊介绍： International Journal of Developmental Neuroscience publishes original research articles and critical review papers on all fundamental and clinical aspects of nervous system development, renewal and regeneration, as well as on the effects of genetic and environmental perturbations of brain development and homeostasis leading to neurodevelopmental disorders and neurological conditions. Studies describing the involvement of stem cells in nervous system maintenance and disease (including brain tumours), stem cell-based approaches for the investigation of neurodegenerative diseases, roles of neuroinflammation in development and disease, and neuroevolution are also encouraged. Investigations using molecular, cellular, physiological, genetic and epigenetic approaches in model systems ranging from simple invertebrates to human iPSC-based 2D and 3D models are encouraged, as are studies using experimental models that provide behavioural or evolutionary insights. The journal also publishes Special Issues dealing with topics at the cutting edge of research edited by Guest Editors appointed by the Editor in Chief. A major aim of the journal is to facilitate the transfer of fundamental studies of nervous system development, maintenance, and disease to clinical applications. The journal thus intends to disseminate valuable information for both biologists and physicians. International Journal of Developmental Neuroscience is owned and supported by The International Society for Developmental Neuroscience (ISDN), an organization of scientists interested in advancing developmental neuroscience research in the broadest sense.