ArticleClinical genetics2025
Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.
Article in Clinical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- The First Case of Kleefstra Syndrome in a Rwandan Patient with Global Developmental Delay.Genes · 2026Article
- Histone acetylation and methylation in rare diseases: from molecular mechanisms to clinical presentations.Frontiers in cell and developmental biology · 2026Review
- Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities.Frontiers in genetics · 2026Article
- Genotype-phenotype correlations in 9q34.3 microdeletion syndrome: a study of 35 Mainland Chinese patients.Orphanet journal of rare diseases · 2025Article
- Machine Learning Algorithms in EEG Analysis of Kleefstra Syndrome: Current Evidence and Future Directions.Sensors (Basel, Switzerland) · 2025Review
- A Novel Frameshift Variant and a PartialGenes · 2025Review
- Development of a Patient and Caregiver-Centered Pediatric Disease Concept Model for Kleefstra Syndrome.Sage open pediatricsArticle
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Authors and funding
16 authors.
Funding
Abstract
Kleefstra syndrome (KLEFS) is a genetic neurodevelopmental disorder caused by haploinsufficiency of EHMT1. The full spectrum of clinical features and genotype-phenotype correlations is currently not fully understood. We performed a retrospective chart review of patients with KLEFS evaluated at the Boston Children's Hospital Kleefstra Clinic. There were 65 individuals (40 females, 25 males, mean age 9.3 years). 17% had large 9q34 deletions (≥ 1 Mb), 29% had small 9q34 deletions (< 1 Mb), and 54% had sequence variants. Global developmental delay (GDD) or intellectual disability (ID) was present in 77%. Behavioral disorders, such as autism spectrum disorder (38%), were common. Epilepsy affected 15%. Systemic health issues included structural cardiac defects (40%), hearing loss (32%), and constipation (31%). Novel features including subgroups with significant motor impairment (24%) and refractory epilepsy (9%), as well as small numbers with opsoclonus-like eye movements (n = 2), thrombocytopenia (n = 2), progressive cerebral atrophy (n = 1), and adrenal carcinoma (n = 1). 9q34 deletion subgroups had higher rates of GDD/ID (p = 0.037), significant motor impairment (p = 0.01), epilepsy (p = 0.004), and cortical visual impairment (p = 0.003) compared to the subgroup with sequence variants. This information may be used to improve clinical care as well as inform research and future therapeutic initiatives.
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