ArticleMolecular genetics & genomic medicine2019
Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype-phenotype correlation analyses of TP63-related disorders.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 18 citations in OpenAlex.
- Novel TP63 Mutation (c.1768C>T, p.Pro590Ser) Expands the Phenotypic Spectrum of TP63-related Disorders: Severe Palmoplantar Hyperkeratosis, Ectodermal Dysplasia, and Cutaneous Squamous Cell Carcinoma.Acta dermato-venereologica · 2026Article
- De Novo Missense Variant in TP63 Gene: Insights on Clinical and Molecular Investigations.The journal of gene medicine · 2025Article
- Prevalence and root canal morphology of taurodontism analyzed by cone-beam computed tomography in Northern China.BMC oral health · 2025Article
- Prevalence of taurodontism in individuals in Northwest China determined by cone-beam computed tomography images.Heliyon · 2023Article
- Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing.Journal of clinical medicine · 2022Article
- Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.BMC medical genomics · 2022Article
- Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate.Scientific reports · 2022Article
- Case report: Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney.Frontiers in genetics · 2022Article
- Spontaneous resolution of nonimmune hydrops fetalis in a fetus withClinical case reports · 2021Article
- Taurodontism in dental genetics.BDJ open · 2021Article
- Novel MSX1 variants identified in families with nonsyndromic oligodontia.International journal of oral science · 2021Article
- Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype-phenotype correlation analyses of TP63-related disorders.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundEctrodactyly-Ectodermal dysplasia-Cleft lip/palate (EEC) syndrome and Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome belong to p63 syndromes, a group of rare disorders exhibiting a wide variety of clinical manifestations. TP63 mutations have been reported to be associated with both EEC and AEC.
methodsAnalysis of whole exome sequencing (WES) from patients with EEC or AEC syndrome and Sanger sequencing from family members.
resultsWe confirmed that three Chinese pedigrees affected with EEC or AEC harboring a distinct TP63 mutation, and described novel clinical phenotypes of EEC and AEC, including the presence of cubitus valgus deformity and taurodontism, which were discordant to their classical disease features. We also analyzed the genotype-phenotype correlation based on our findings.
conclusionWe reported that the cubitus valgus deformity in patients with EEC and severe taurodontism in a patient with AEC had not been mentioned previously. Our study expands the phenotypic spectrum of EEC and AEC syndrome.
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