A novel mutation of TP63 gene in a patient with Ankyloblepharon-Ectodermal Defects-Cleft lip/palate syndrome
A novel mutation of TP63 gene in a patient with Ankyloblepharon-Ectodermal Defects-Cleft lip/palate syndrome
Abstract
Introduction: Ankyloblepharon, ectodermal defects, and cleft lip and palate (AEC) syndrome is a rare autosomal dominant disorder caused by mutation in TP63 gene. We experienced a sporadic case of AEC syndrome with a novel missense mutation in TP63 gene. Case: A 2,580-g female infant born at 39 weeks’ gestation presented with cleft lip and palate, ankyloblepharon, hyponychia, syndactyly of the third and fourth fingers on the right and the third and fourth toes on the left, and skin erosions on the scalp and back. She had no sibling. Both parents were unaffected and denied a history of consanguity. Direct sequencing analysis of the exons and introns in the TP63 gene extracted from her peripheral blood was done. And a novel missense mutation was found, which is c.1655T>G (p.Phe552Cys). Conclusion: We report a sporadic case of AEC syndrome for which genetic analysis has revealed a novel mutation in TP63 gene.