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ABSTRACT
Background: Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome is a disorder resulting from anomalous embryonic development of ectodermal tissues. There is evidence that AEC syndrome is caused by mutations in the TP63 gene, which encodes the p63 protein. This is an important regulatory protein involved in epidermal proliferation and differentiation.
Materials and methods: Genome sequencing was performed in DNA from peripheral blood leukocytes of a newborn with AEC syndrome and her parents. Variants were searched in all coding exons and intron-exon boundaries of the TP63 gene.
Results: A heterozygous missense variant (NM_003722.4:c.1063G>C (p.Asp355His) was found in the newborn patient. No variants were found in either of the parents.
Conclusions: We identified a previously unreported variant in TP63 gene which seems to be involved in the somatic malformations found in the AEC syndrome. The absence of this variant in both parents suggests that the variant appeared de novo.
Acknowledgments
We thank the patient and her parents reported in this article for their kind collaboration and participation in this study.
Declaration of interest
The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.
Funding
This study was partially supported by Plan Nacional 2013-2016, ISCIII-Subdireccion General de Evaluacion y Fomento de la Investigacion (RETICS, Oftared, RD12/0034/0017) and by Fondo Europeo de Desarrollo Regional (FEDER).