ArticleAmerican journal of human genetics2018
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.
Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 85 papers, 1 of them a synthesis that pooled it.
What it found
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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
85 citing papers in PubMed, 1 synthesis or guideline pooled it, 129 citations in OpenAlex.
- Variants in CALD1, ESRP1, and RBFOX1 are associated with orofacial cleft risk.PLoS genetics · 2025Pooled it
- Trial
- Next-Generation Sequencing Data and Clinical Features in Patients with Cleft Palate and Tooth Agenesis: A Systematic Literature Review.Dentistry journal · 2026Review
- Whole exome sequencing uncovers genetic syndromes and putative candidate genes underlying orofacial clefts presenting with limb abnormalities in a Sub-Saharan African cohort.BMC medical genomics · 2026Article
- Rare variants in embryonic development and cell signalling genes in syndromic and non-syndromic orofacial clefts: evidence from a Colombian Caribbean cohort.Journal of human genetics · 2026Article
- Current Animal Models of Cleft Lip and/or Palate: A Narrative Review.Biomedicines · 2026Review
- Evidence that disruption of Discoidin domain receptor 2 contributes to palate malformations through effects on the extracellular matrix.Human molecular genetics · 2026Article
- Actomyosin contractility and a threshold of cadherin cell adhesion are required during tissue fusion.The Journal of cell biology · 2026Article
- Whole Genome Sequencing of Discordant Monozygotic Twins Reveals Regulatory Variants Associated With Nonsyndromic Orofacial Clefts.Human mutation · 2026Article
- The oral maternal microbiome plays a role in the development of cleft lip and palate condition in children.PeerJ · 2026Article
- The Changing Landscape of Hereditary Diffuse Gastric Cancer.Journal of gastric cancer · 2026Review
- Expanding the Genetic Spectrum of Non-Syndromic Cleft Lip and Palate Through Whole-Exome Sequencing.International journal of molecular sciences · 2025Article
- Whole Exome Sequencing Uncovers Genetic Syndromes Associated with Orofacial Clefts presenting with Limb abnormalities in a Sub-Saharan African cohort.Research square · 2025Article
- Genetic requirement for Esrp1 and Esrp2 in vertebrate pituitary morphogenesis.Development (Cambridge, England) · 2025Article
- Review
- Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Gene-by-Environment Interactions Involving Maternal Exposures with Orofacial Cleft Risk in Filipinos.Genes · 2025Article
- Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models.European journal of human genetics : EJHG · 2025Article
- Cleft Palate Induced by Mycophenolate Mofetil Is Associated withNon-coding RNA · 2025Article
- Genetic association of single nucleotide polymorphisms in PLEKHA7 gene with primary angle closure glaucoma (PACG) in a Central-Eastern Punjab cohort of Pakistan.Molecular biology reports · 2025Article
25 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
33 authors at 14 institutions in 3 countries.
Funding
Abstract
Non-syndromic cleft lip with or without cleft palate (NS-CL/P) is one of the most common human birth defects and is generally considered a complex trait. Despite numerous loci identified by genome-wide association studies, the effect sizes of common variants are relatively small, with much of the presumed genetic contribution remaining elusive. We report exome-sequencing results in 209 people from 72 multi-affected families with pedigree structures consistent with autosomal-dominant inheritance and variable penetrance. Herein, pathogenic variants are described in four genes encoding components of the p120-catenin complex (CTNND1, PLEKHA7, PLEKHA5) and an epithelial splicing regulator (ESRP2), in addition to the known CL/P-associated gene, CDH1, which encodes E-cadherin. The findings were also validated in a second cohort of 497 people with NS-CL/P, comprising small families and singletons with pathogenic variants in these genes identified in 14% of multi-affected families and 2% of the replication cohort of smaller families. Enriched expression of each gene/protein in human and mouse embryonic oro-palatal epithelia, demonstration of functional impact of CTNND1 and ESRP2 variants, and recapitulation of the CL/P spectrum in Ctnnd1 knockout mice support a causative role in CL/P pathogenesis. These data show that primary defects in regulators of epithelial cell adhesion are the most significant contributors to NS-CL/P identified to date and that inherited and de novo single gene variants explain a substantial proportion of NS-CL/P.
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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.