Trial reportEuropean journal of human genetics : EJHG2019
Deletions and loss-of-function variants in TP63 associated with orofacial clefting.
Trial report in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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.
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Who cites it
14 citing papers in PubMed, 22 citations in OpenAlex.
- Genome-wide assessment of rare protein-coding variants identifies associations with non-syndromic cleft lip/palate.European journal of human genetics : EJHG · 2026Article
- Novel variants ofFrontiers in genetics · 2026Article
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome in monozygotic twins with a novel tumor protein p63 gene pathogenic variant.JAAD case reports · 2025Article
- Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?American journal of medical genetics. Part A · 2023Article
- Heterozygous TP63 pathogenic variants in isolated primary ovarian insufficiency.Journal of assisted reproduction and genetics · 2023Article
- Identification of Novel Risk Variants of Non-Syndromic Cleft Palate by Targeted Gene Panel Sequencing.Journal of clinical medicine · 2023Article
- Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?medRxiv : the preprint server for health sciences · 2023Article
- DNA methylation differences in monozygotic twins with Van der Woude syndrome.Frontiers in dental medicine · 2023Article
- Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.BMC medical genomics · 2022Article
- Prenatal diagnosis of ectrodactyly-ectodermal dysplasia clefting syndrome ‒ a case report with literature review.Case reports in perinatal medicine · 2022Article
- Mouse models in palate development and orofacial cleft research: Understanding the crucial role and regulation of epithelial integrity in facial and palate morphogenesis.Current topics in developmental biology · 2022Article
- Identification of a novel TP63 mutation causing nonsyndromic cleft lip with or without cleft palate.BMC medical genomics · 2021Article
- Isoform-Specific Roles of Mutant p63 in Human Diseases.Cancers · 2021Review
Corrections and comments
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Authors and funding
26 authors at 8 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We aimed to identify novel deletions and variants of TP63 associated with orofacial clefting (OFC). Copy number variants were assessed in three OFC families using microarray analysis. Subsequently, we analyzed TP63 in a cohort of 1072 individuals affected with OFC and 706 population-based controls using molecular inversion probes (MIPs). We identified partial deletions of TP63 in individuals from three families affected with OFC. In the OFC cohort, we identified several TP63 variants predicting to cause loss-of-function alleles, including a frameshift variant c.569_576del (p.(Ala190Aspfs*5)) and a nonsense variant c.997C>T (p.(Gln333*)) that introduces a premature stop codon in the DNA-binding domain. In addition, we identified the first missense variants in the oligomerization domain c.1213G>A (p.(Val405Met)), which occurred in individuals with OFC. This variant was shown to abrogate oligomerization of mutant p63 protein into oligomeric complexes, and therefore likely represents a loss-of-function allele rather than a dominant-negative. All of these variants were inherited from an unaffected parent, suggesting reduced penetrance of such loss-of-function alleles. Our data indicate that loss-of-function alleles in TP63 can also give rise to OFC as the main phenotype. We have uncovered the dosage-dependent functions of p63, which were previously rejected.
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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.