ArticleJournal of human genetics2017
TFAP2B mutation and dental anomalies.
Article in Journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.
- Unilateral Agenesis of the Upper Permanent Lateral Incisors in Growing Patients: Gap Closure or Gap Opening? A Systematic Review.International dental journal · 2025Pooled it
- Deletion of ARPKD-associated Pkhd1 gene in mice results in decreased Tfap2b expression and eye abnormalities.Nature communications · 2026Article
- Studies of mice with a large deletion of the ARPKD-associatedbioRxiv : the preprint server for biology · 2026Article
- Genetic Variants inInternational journal of molecular sciences · 2024Article
- Generation of tamoxifen-inducible Tfap2b-CreERGenesis (New York, N.Y. : 2000) · 2024Article
- Article
- Identification of novel candidate genes implicated in odontogenic potential in the developing mouse tooth germ using transcriptome analysis.Genes & genomics · 2021Article
- Anomalous incisor morphology indicates tissue-specific roles for Tfap2a and Tfap2b in tooth development.Developmental biology · 2021Article
- A human specific Alu DNA cassette is found flanking the genes of transcription factor AP2.BMC research notes · 2019Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations inTFAP2B has been reported in patients with isolated patent ductus arteriosus (PDA) and Char syndrome. We performed mutation analysis of TFAP2B in 43 patients with isolated PDA, 7 patients with PDA with other congenital heart defects and 286 patients with isolated tooth agenesis with or without other dental anomalies. The heterozygous c.1006G>A mutation was identified in 20 individuals. Those mutation carriers consisted of 1 patient with term PDA (1/43), 16 patients with isolated tooth agenesis with or without other dental anomalies (16/286; 5.6%), 1 patient with PDA and severe valvular aortic stenosis and tooth agenesis (1/4) and 2 normal controls (2/100; 1%). The mutation is predicted to cause an amino-acid substitution p.Val336Ile in the TFAP2B protein. Tfap2b expression during early mouse tooth development supports the association of TFAP2B mutation and dental anomalies. It is hypothesized that this incidence might have been the result of founder effect. Here we report for the first time that TFAP2B mutation is associated with tooth agenesis, microdontia, supernumerary tooth and root maldevelopment. In addition, we also found that TFAP2B mutations, the common causes of PDA in Caucasian, are not the common cause of PDA in Thai population.
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