ArticleThe journal of gene medicine2025
De Novo Missense Variant in TP63 Gene: Insights on Clinical and Molecular Investigations.
Article in The journal of gene medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 2 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed.
- Correction to "De Novo Missense Variant in TP63 Gene: Insights on Clinical and Molecular Investigations".The journal of gene medicine · 2026Article
- De Novo Missense Variant in TP63 Gene: Insights on Clinical and Molecular Investigations.The journal of gene medicine · 2025Article
Corrections and comments
- Erratum issued
Authors and funding
4 authors.
Funding
Abstract
objectiveThis study aims to investigate the phenotypes, mutation types, and loci associated with TP63-related syndrome by focusing on an affected proband.
methodsEmploying a proband collection strategy, we identified a family presenting with TP63-related syndrome and performed thorough clinical evaluations on the proband and family members. We subsequently documented the phenotype, mutation type, and locus of the TP63 gene, followed by Sanger DNA sequencing analysis.
resultsWe identified a family affected by TP63-related syndrome. The proband, a young adult male, demonstrated congenital anodontia, hypohidrosis, sparse hair, and additional features characteristic of ectodermal dysplasia. Further clinical manifestations included left ear hearing impairment, cleft lip/palate, hypospadias, and syndactyly. Sequencing analysis revealed a missense nucleotide variant (c.184G>C, p.Val62Leu) in exon 2 of the TP63 gene. This variant was absent from established SNP databases and was not detected in other family members or unrelated healthy individuals.
conclusionsThe family exhibits significant symptoms consistent with TP63 syndrome. The identified missense mutation is preliminarily considered to be pathogenic.
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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.