ArticleJournal of human genetics2019
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.
Article in Journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
33 citing papers in PubMed, 59 citations in OpenAlex.
- A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature Review.Molecular genetics & genomic medicine · 2026Review
- ZMYND11 p.Arg600Trp variant associated with a distinctive neurodevelopmental phenotype.Human genome variation · 2026Article
- Novel Insights: A Novel PHIP Variant in a Family with Severe Early-Onset Obesity.Hormone research in paediatrics · 2026Article
- Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants.BMC ophthalmology · 2025Article
- Contribution of families using the GenIDA database to the description of MED13L syndrome and literature review.Journal of neurodevelopmental disorders · 2025Review
- Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.Human mutation · 2025Article
- Case Report: Novel mutations in two patients withFrontiers in genetics · 2025Article
- Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.Orphanet journal of rare diseases · 2024Review
- Pathogenic PHIP Variants are Variably Associated With CAKUT.Kidney international reports · 2024Article
- Early Diagnosis and Management of Arthrogryposis Multiplex Congenita in a Neonate: A Case Study.Cureus · 2024Article
- Further Delineation of Clinical Phenotype ofGenes · 2024Article
- BRD4 binds to active cranial neural crest enhancers to regulate RUNX2 activity during osteoblast differentiation.Development (Cambridge, England) · 2024Article
- Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype.Molecular genetics & genomic medicine · 2024Article
- Genetic and genomic analyses of Drosophila melanogaster models of chromatin modification disorders.Genetics · 2023Article
- Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting inMedicina (Kaunas, Lithuania) · 2023Article
- Structure, activity and function of the lysine methyltransferase SETD5.Frontiers in endocrinology · 2023Review
- Disease-associated c-MYC downregulation in human disorders of transcriptional regulation.Human molecular genetics · 2022Article
- Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature.Journal of personalized medicine · 2022Article
- Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review.Frontiers in pediatrics · 2022Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
22 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder with specific dysmorphic features. Pathogenic genetic variants encoding cohesion complex subunits and interacting proteins (e.g., NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the major causes of CdLS. However, there are many clinically diagnosed cases of CdLS without pathogenic variants in these genes. To identify further genetic causes of CdLS, we performed whole-exome sequencing in 57 CdLS families, systematically evaluating both single nucleotides variants (SNVs) and copy number variations (CNVs). We identified pathogenic genetic changes in 36 out of 57 (63.2 %) families, including 32 SNVs and four CNVs. Two known CdLS genes, NIPBL and SMC1A, were mutated in 23 and two cases, respectively. Among the remaining 32 individuals, four genes (ANKRD11, EP300, KMT2A, and SETD5) each harbored a pathogenic variant in a single individual. These variants are known to be involved in CdLS-like. Furthermore, pathogenic CNVs were detected in NIPBL, MED13L, and EHMT1, along with pathogenic SNVs in ZMYND11, MED13L, and PHIP. These three latter genes were involved in diseases other than CdLS and CdLS-like. Systematic clinical evaluation of all patients using a recently proposed clinical scoring system showed that ZMYND11, MED13L, and PHIP abnormality may cause CdLS or CdLS-like.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.