ArticleAmerican journal of human genetics2001
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 127 papers, 1 of them a synthesis that pooled it.
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127 citing papers in PubMed, 1 synthesis or guideline pooled it, 377 citations in OpenAlex.
- Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne.Nature communications · 2018Pooled it
- Deletions and loss-of-function variants in TP63 associated with orofacial clefting.European journal of human genetics : EJHG · 2019Trial
- Unveiling the Prevalence and Surgical Burden of Neurocristopathies: A Scoping Review and Statistical Analysis.Research square · 2026Article
- Novel variants ofFrontiers in genetics · 2026Article
- Split Hand/Foot Malformation with Acquired Middle Ear Cholesteatoma Secondary to Eustachian Tube Dysfunction: A Case Report and Literature Review.International medical case reports journal · 2026Article
- Identification of novel tumor protein 63 variant associated with split-hand/foot malformation and tooth agenesis.Frontiers in medicine · 2026Article
- Malformation Pattern and Molecular Findings in theMedical sciences (Basel, Switzerland) · 2025Review
- A TAp63alpha truncating variant associated with primary ovarian insufficiency lowers the cellular apoptotic rate.Journal of ovarian research · 2025Article
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- Differential Transcriptional Activity of ΔNp63β Is Encoded by an Isoform-Specific C-Terminus.Molecular and cellular biology · 2025Article
- Crosstalk between paralogs and isoforms influences p63-dependent regulatory element activity.Nucleic acids research · 2024Article
- ΔNp63 bookmarks and creates an accessible epigenetic environment for TGFβ-induced cancer cell stemness and invasiveness.Cell communication and signaling : CCS · 2024Article
- Context dependent activity of p63-bound gene regulatory elements.bioRxiv : the preprint server for biology · 2024Article
- A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in theMolecular syndromology · 2024Article
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- The urothelial gene regulatory network: understanding biology to improve bladder cancer management.Oncogene · 2024Review
- Case report: Artificial thymic organoids facilitate clinical decisions for a patient with aFrontiers in immunology · 2024Article
- Tooth agenesis: An overview of diagnosis, aetiology and management.The Japanese dental science review · 2023Review
- Heterozygous TP63 pathogenic variants in isolated primary ovarian insufficiency.Journal of assisted reproduction and genetics · 2023Article
- A novel de novo TP63 mutation in whole-exome sequencing of a Syrian family with Oral cleft and ectrodactyly.Molecular genetics & genomic medicine · 2023Article
67 more citing papers are in PubMed but not listed here.
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Authors and funding
25 authors at 14 institutions in 9 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
p63 mutations have been associated with EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip/palate), as well as with nonsyndromic split hand-split foot malformation (SHFM). We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by ectrodactyly, cleft palate, and mammary-gland abnormalities. The results differed for these three conditions. p63 gene mutations were detected in almost all (40/43) individuals affected with EEC syndrome. Apart from a frameshift mutation in exon 13, all other EEC mutations were missense, predominantly involving codons 204, 227, 279, 280, and 304. In contrast, p63 mutations were detected in only a small proportion (4/35) of patients with isolated SHFM. p63 mutations in SHFM included three novel mutations: a missense mutation (K193E), a nonsense mutation (Q634X), and a mutation in the 3' splice site for exon 5. The fourth SHFM mutation (R280H) in this series was also found in a patient with classical EEC syndrome, suggesting partial overlap between the EEC and SHFM mutational spectra. The original family with LMS (van Bokhoven et al. 1999) had no detectable p63 mutation, although it clearly localizes to the p63 locus in 3q27. In two other small kindreds affected with LMS, frameshift mutations were detected in exons 13 and 14, respectively. The combined data show that p63 is the major gene for EEC syndrome, and that it makes a modest contribution to SHFM. There appears to be a genotype-phenotype correlation, in that there is a specific pattern of missense mutations in EEC syndrome that are not generally found in SHFM or LMS.
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