ArticleScientific reports2017
Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients.
Article in Scientific reports, 2017. 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, 32 citations in OpenAlex.
- Computational strategies for copy number variation detection, disease association, and beyond.Genome biology · 2026Review
- Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors.Genes · 2024Review
- Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome.Genetics research · 2024Article
- An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration.BMC medical genomics · 2023Article
- Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.International journal of molecular sciences · 2023Review
- Inherited deletion of 9p22.3-p24.3 and duplication of 18p11.31-p11.32 associated with neurodevelopmental delay: Phenotypic matching of involved genes.Journal of cellular and molecular medicine · 2023Article
- Craniofacial Phenotypes and Genetics of DiGeorge Syndrome.Journal of developmental biology · 2022Review
- Clinical, Immunological, and Genetic Findings in a Cohort of Patients with the DiGeorge Phenotype without 22q11.2 Deletion.Journal of clinical medicine · 2022Article
- Functional Dysconnectivity in Ventral Striatocortical Systems in 22q11.2 Deletion Syndrome.Schizophrenia bulletin · 2022Article
- Abnormal nodal and global network organization in resting state functional MRI from subjects with the 22q11 deletion syndrome.Scientific reports · 2021Article
- Personalized Genetic Diagnosis of Congenital Heart Defects in Newborns.Journal of personalized medicine · 2021Review
- Transcriptomic networks implicate neuronal energetic abnormalities in three mouse models harboring autism and schizophrenia-associated mutations.Molecular psychiatry · 2021Article
- Mending a broken heart:Disease models & mechanisms · 2021Review
- Review
- Paternal Inheritance of Bisphenol A Cardiotoxic Effects: The Implications of Sperm Epigenome.International journal of molecular sciences · 2021Article
- Machine Learning Identifies Six Genetic Variants and Alterations in the Heart Atrial Appendage as Key Contributors to PD Risk Predictivity.Frontiers in genetics · 2021Article
- Review
- Construction and analysis for differentially expressed long non-coding RNAs and mRNAs in acute myocardial infarction.Scientific reports · 2020Article
- Deletions in Genes Participating in Innate Immune Response Modify the Clinical Course of Andes Orthohantavirus Infection.Viruses · 2019Article
- The non-specific lethal (NSL) complex at the crossroads of transcriptional control and cellular homeostasis.EMBO reports · 2019Review
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
22q11.2 microdeletion syndrome (22q11.2DS) is the most common microdeletion disorder in humans, with an incidence of 1/4000 live births. It is caused by a heterozygous deletion of 1.5-3 Mb on chromosome region 22q11.2. Patients with the deletion present features that include neuropsychiatric problems, craniofacial abnormalities and cardiovascular malformations. However, the phenotype is highly variable and the factors related to the clinical heterogeneity are not fully understood. About 65% of patients with 22q11.2DS have congenital heart defects (CHD). The main goal of this study was to identify common CNVs in 22q11.2DS patients that could be associated with the incomplete penetrance of CHD. Analysis of genomic DNA from 253 patients with 22q11.2DS using array technology showed an association between a microduplication located in region 17q21.31 and CHD (p-value = 0.023, OR = 2.75, 95% CI = 1.17-7.03). This region includes the first three exons of KANSL1 gene. Bioinformatic analysis showed that KANSL1 and CRKL, a gene in the commonly deleted region of 22q11.2DS, are part of the same regulatory module in a miRNA-mRNA network. These results show that a KANSL1 microduplication, in combination with the 22q11.2 deletion, is associated with increased risk of CHD in these patients, suggesting that KANSL1 plays a role as a modifier gene in 22q11.2DS patients.
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