Background: Ectrodactyly-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.
Methods: Analysis of whole exome sequencing (WES) from patients with EEC or AEC syndrome and Sanger sequencing from family members.
Results: We 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.
Conclusion: We 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.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565570 | PMC |
| http://dx.doi.org/10.1002/mgg3.704 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Case report: Artificial thymic organoids facilitate clinical decisions for a patient with a variant and severe persistent T cell lymphopenia.
Front Immunol
October 2024
Division of Immunology, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, United States.
Article Synopsis
- Pathogenic variants in a specific transcription factor are linked to syndromes like EEC and AEC, and this case report presents an infant with severe T cell lymphopenia, detected during newborn screening.
- Flow cytometry revealed low levels of CD4+ and almost no CD8+ T cells, while the B and NK cell levels were normal; further genetic analysis identified a particular variant in the transcription factor.
- Using an artificial thymic organoid system, researchers found that T cell differentiation occurred, implying a thymic defect, leading to the patient receiving an allogenic cultured thymus tissue implant, which showed promising signs of T cell development after 9 months.
Effect of Inverse Solutions, Connectivity Measures, and Node Sizes on EEG Source Network: A Simultaneous EEG Study.
IEEE Trans Neural Syst Rehabil Eng
July 2024
Brain network provides an essential perspective for studying normal and pathological brain activities. Reconstructing the brain network in the source space becomes more needed, for example, as a target in non-invasive neuromodulation. Precise estimating source activities from the scalp EEG is still challenging because it is an ill-posed question and because of the volume conduction effect.
View Article and Find Full Text PDFA spectrum of TP63-related disorders with eight affected individuals in five unrelated families.
Eur J Med Genet
April 2024
Department of Pediatric Genetics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
Article Synopsis
- TP63-related disorders involve various symptoms like sparse hair, tooth issues, and cleft lip/palate, linked to mutations in the TP63 gene.
- These disorders include overlapping conditions such as AEC syndrome and EEC3 syndrome, which were diagnosed in patients from five unrelated families.
- Genetic analysis of the TP63 gene revealed multiple variants, indicating a strong genetic link to the observed symptoms, and should prompt doctors to consider these disorders when they see signs of ectodermal abnormalities or clefting.
Ocular Manifestations in Patients Affected by p63-Associated Disorders: Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Defects-Cleft Lip Palate (AEC) Syndromes.
J Clin Med
November 2023
Fondazione Banca Degli Occhi del Veneto, 30174 Venice, Italy.
Background/aims: The Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) and Ankyloblepharon-ectodermal defect-cleft lip/palate (AEC) syndromes are rare autosomal dominant diseases caused by heterozygous mutations in the p63 gene. Patients are characterized by abnormalities of the skin, teeth, and hair and have limb defects, orofacial clefting and ectodermal dysplasia. In addition, they often show ocular surface alterations, leading to progressive corneal clouding and eventually blindness.
View Article and Find Full Text PDFFusobacterium nucleatum promotes the early occurrence of esophageal cancer through upregulation of IL-32/PRTN3 expression.
Cancer Sci
June 2023
Department of Gastroenterology, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, 400010, China.
Previous studies have shown that gastrointestinal microbiome is associated with the development of esophageal cancer, but the relationship and molecular mechanism between esophageal microbiota and the early development of esophageal cancer remain unclear. Here, we found that Lactobacillus, Escherichia-Shigella, Rikenellaceae-RC9-gut-group, Morganella, and Fusobacterium were more abundant in early-stage esophageal cancer (EEC) tissues compared with normal esophageal tissues. The abundance of bacteria such as Prevotella, Fusobacterium, Porphyromonas, Actinobacillus, and Neisseria in advanced esophageal cancer (AEC) was higher than that in EEC.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!