ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 1 of them a synthesis that pooled it.
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60 citing papers in PubMed, 1 synthesis or guideline pooled it, 88 citations in OpenAlex.
- The predictive accuracy of machine learning for the risk of death in HIV patients: a systematic review and meta-analysis.BMC infectious diseases · 2024Pooled it
- Contribution of cohesins STAG1 and STAG2 to preimplantation development in mice.Communications biology · 2026Article
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- Novel variants inExperimental and therapeutic medicine · 2026Article
- Clinical,medRxiv : the preprint server for health sciences · 2026Article
- First Cornelia de Lange Syndrome Type 4 Caused by the Gonadal Mosaicism ofHuman mutation · 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
- Liquid-liquid phase separation-related genes in the immune microenvironment and diagnosis of focal segmental glomerulosclerosis and minimal change disease.Renal failure · 2025Article
- A Novel STAG2 Frameshift Variant in Mullegama-Klein-Martinez Syndrome with Complex Conotruncal Heart Defect.Genes · 2025Article
- Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients.Pediatric investigation · 2025Article
- Panretinal Congenital Hypertrophy of the RPE in an 8-Year-Old Girl with an X-Linked STAG2 Mutation.Journal of clinical medicine · 2025Article
- Whole-exome sequencing analysis identifies risk genes for schizophrenia.Nature communications · 2025Article
- X-linked competition - implications for human development and disease.Nature reviews. Genetics · 2025Review
- 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
- Cohesin in 3D: development, differentiation, and disease.Genes & development · 2025Review
- Article
- A novel frameshiftFrontiers in pediatrics · 2025Article
- Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants.American journal of human genetics · 2024Article
- A Novel De NovoGenes · 2024Article
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Authors and funding
47 authors at 18 institutions in 5 countries.
Funding
Abstract
purposeDefects in the cohesin pathway are associated with cohesinopathies, notably Cornelia de Lange syndrome (CdLS). We aimed to delineate pathogenic variants in known and candidate cohesinopathy genes from a clinical exome perspective.
methodsWe retrospectively studied patients referred for clinical exome sequencing (CES, N = 10,698). Patients with causative variants in novel or recently described cohesinopathy genes were enrolled for phenotypic characterization.
resultsPathogenic or likely pathogenic single-nucleotide and insertion/deletion variants (SNVs/indels) were identified in established disease genes including NIPBL (N = 5), SMC1A (N = 14), SMC3 (N = 4), RAD21 (N = 2), and HDAC8 (N = 8). The phenotypes in this genetically defined cohort skew towards the mild end of CdLS spectrum as compared with phenotype-driven cohorts. Candidate or recently reported cohesinopathy genes were supported by de novo SNVs/indels in STAG1 (N = 3), STAG2 (N = 5), PDS5A (N = 1), and WAPL (N = 1), and one inherited SNV in PDS5A. We also identified copy-number deletions affecting STAG1 (two de novo, one of unknown inheritance) and STAG2 (one of unknown inheritance). Patients with STAG1 and STAG2 variants presented with overlapping features yet without characteristic facial features of CdLS.
conclusionCES effectively identified disease-causing alleles at the mild end of the cohensinopathy spectrum and enabled characterization of candidate disease genes.
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