ArticleMolecular genetics & genomic medicine2019
Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 41 citations in OpenAlex.
- Testing the Transferability of Perturbational Similarity Maps Across Species, Cell Systems, and Assay Modalities.Neuroinformatics · 2026Article
- Contribution of cohesins STAG1 and STAG2 to preimplantation development in mice.Communications biology · 2026Article
- MCVAE-based multi-omic anomaly detection in Fragile X Syndrome.NAR molecular medicine · 2026Article
- Co-occurrence of GATA2 deficiency and probable constitutional mosaic STAG2 alteration in a young adult with myelodysplastic syndrome: a case report.Frontiers in medicine · 2026Article
- STAG2-truncating variants reveal a mosaic STAG2 inactivation pattern and compensatory mechanisms involving cohesin complex remodeling.iScience · 2025Article
- Genome Editing for Fertility: Unlocking the Promise of CRISPR/Cas9 in Addressing Male Infertility - A Narrative Review.Reproductive sciences (Thousand Oaks, Calif.) · 2025Review
- X-linked competition - implications for human development and disease.Nature reviews. Genetics · 2025Review
- Article
- Cohesin composition and dosage independently affect early development in zebrafish.Development (Cambridge, England) · 2024Article
- STAG2: Computational Analysis of Missense Variants Involved in Disease.International journal of molecular sciences · 2024Article
- Non-Invasive Detection of a De Novo Frameshift Variant ofJournal of clinical medicine · 2022Article
- Review
- Prioritization of putatively detrimental variants in euploid miscarriages.Scientific reports · 2022Article
- Somatic mosaicism inFrontiers in cell and developmental biology · 2022Article
- Expanding the known phenotype of Mullegama-Klein-Martinez syndrome in male patients.Human genome variation · 2021Article
- Cohesin Mutations in Cancer: Emerging Therapeutic Targets.International journal of molecular sciences · 2021Review
- Chromosome loading of cohesin depends on conserved residues in Scc3.Current genetics · 2021Article
- Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.Human genetics · 2020Article
- Nonsense variants ofHuman genome variation · 2020Article
- The expanding phenotypes of cohesinopathies: one ring to rule them all!Cell cycle (Georgetown, Tex.) · 2019Review
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6 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundThe cohesin complex is a multi-subunit protein complex which regulates sister chromatid cohesion and separation during cellular division. In addition, this evolutionarily conserved protein complex plays an integral role in DNA replication, DNA repair, and the regulation of transcription. The core complex is composed of four subunits: RAD21, SMC1A, SMC3, and STAG1/2. Mutations in these proteins have been implicated in human developmental disorders collectively termed "cohesinopathies."
methodsUsing clinical exome sequencing, we have previously identified three female cases with heterozygous STAG2 mutations and overlapping syndromic phenotypes. Subsequently, a familial missense variant was identified in five male family members.
resultsWe now present the case of a 4-year-old male with developmental delay, failure to thrive, short stature, and polydactyly with a likely pathogenic STAG2 de novo missense hemizygous variant, c.3027A>T, p.Lys1009Asn. Furthermore, we compare the phenotypes of the four previously reported STAG2 variants with our case.
conclusionWe conclude that mutations in STAG2 cause a novel constellation of sex-specific cohesinopathy-related phenotypes and are furthermore, essential for neurodevelopment, human growth, and behavioral development.
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