ArticleOral diseases2019
Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndrome.
Article in Oral diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 25 citations in OpenAlex.
- Soluble Notch agonist enables human ameloblast maturation and enamel-like tissue formation for tooth regeneration.International journal of oral science · 2026Article
- Prevalence and root canal morphology of taurodontism analyzed by cone-beam computed tomography in Northern China.BMC oral health · 2025Article
- Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap.Journal of clinical medicine · 2024Review
- High prevalence of taurodontism in North China and its relevant factors: a retrospective cohort study.Oral radiology · 2023Article
- Prevalence of taurodontism in individuals in Northwest China determined by cone-beam computed tomography images.Heliyon · 2023Article
- Article
- The Human Genetics of Dental Anomalies.Global medical genetics · 2022Review
- Mechanisms during Osteogenic Differentiation in Human Dental Follicle Cells.International journal of molecular sciences · 2022Review
- Taurodontism in dental genetics.BDJ open · 2021Article
- The crest phenotype in domestic chicken is caused by a 197 bp duplication in the intron of HOXC10.G3 (Bethesda, Md.) · 2021Article
- Dental management of tricho-dento-osseous syndrome in adolescent patients: Literature review and case presentation.Dental research journal · 2021Article
- MutantPeerJ · 2020Article
- "Isolated" Amelogenesis Imperfecta Associated withCase reports in genetics · 2020Article
- Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndrome.Oral diseases · 2019Article
- An unusual case of tricho-dento-osseous syndrome.Dental research journalArticle
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Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesVariants in DLX3 cause tricho-dento-osseous syndrome (TDO, MIM #190320), a systemic condition with hair, nail and bony changes, taurodontism and amelogenesis imperfecta (AI), inherited in an autosomal dominant fashion. Different variants found within this gene are associated with different phenotypic presentations. To date, six different DLX3 variants have been reported in TDO. The aim of this paper was to explore and discuss three recently uncovered new variants in DLX3. SUBJECTS AND
methodsWhole-exome sequencing identified a new DLX3 variant in one family, recruited as part of an ongoing study of genetic variants associated with AI. Targeted clinical exome sequencing of two further families revealed another new variant of DLX3 and complete heterozygous deletion of DLX3. For all three families, the phenotypes were shown to consist of AI and taurodontism, together with other attenuated features of TDO.
resultsc.574delG p.(E192Rfs*66), c.476G>T (p.R159L) and a heterozygous deletion of the entire DLX3 coding region were identified in our families.
conclusionThese previously unreported variants add to the growing literature surrounding AI, allowing for more accurate genetic testing and better understanding of the associated clinical consequences.
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