Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate Syndrome (EEC) in Patients with TP63 Variants

Document Type : Original Article

Authors

1 Department of Medical Molecular Genetics, National Research Centre., Center of Excellence of Human Genetics (CEHG), Human Genetics and Genome Research Institute, Cairo, Egypt.

2 Department of Clinical Genetics., Center of Excellence of Human Genetics (CEHG), Human Genetics and Genome Research Institute, Cairo, Egypt.

Abstract

Background: Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome (EEC) is a limb malformation in the form of Split hand/split foot malformations (SHFM). Tumor Protein P63 (TP63) is an important gene that has a role in tissue development and apoptosis. Different mutations in the TP63 gene can cause variable clinical disorders, such as EEC3 syndrome and SHFM4. Objective: We report two Egyptian families with SHFM that are consistent with EEC syndrome. The molecular investigation was performed in the proband of each family using Next Generation Sequencing.
Results: Two variants were detected in exons 5 and 7 of TP63 gene. Family segregation of the identified variants has been confirmed by Sanger sequencing. The two affected patients have different variants in two different exons that lead to clinical variability. Conclusion: This study is the first to identify the genetic variants involved in the EEC syndrome. Gene variants may lead to phenotypic variability among differently affected patients with similar TP63 gene variants..

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