ReviewInternational journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience2025
Neurological Disease Syndrome Caused by a STAG1 Gene Variant: A Case Report and Literature Review.
Review in International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed.
- Do Genetic Variants Directly Shape Population-Level Schizophrenia Burden? A Global Genomic Analysis.Biological psychiatry global open science · 2026Article
- Article
- Neurological Disease Syndrome Caused by a STAG1 Gene Variant: A Case Report and Literature Review.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2025Review
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6 authors.
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Abstract
backgroundThe 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.
methodsA comprehensive literature review was conducted to summarize previously reported STAG1 variants and their associated clinical features.
conclusionThis 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.
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