AEC Syndrome Confirmed by Genetic Study in Neonate: A Case Report / 대한주산의학회잡지

ABSTRACT

AEC syndrome (Ankyloblepharon-Ectodermal defects-Cleft lip/palate syndrome) is a rare disorder characterized by ankyloblepharon, ectodermal dysplasia and cleft lip or palate. This disease is inherited in an autosomal dominant pattern with variable expressivity, and mutations in the TP63 gene on chromosome 3q28 are the genetic basis. A 14-day-old Korean boy presented with coarse, sparse hair on his scalp, erosive dermatitis, nail dysplasia, and a cleft palate at birth. Direct sequence analysis of the entire coding region of the TP63 gene of this boy showed a missense mutation c.1739 C>T (p.Ser541Phe) in the sterile-alpha-motif (SAM) domain. Family study revealed that neither of the parents had the mutation, indicating the de novo occurrence of the mutation. This is the second Korean case report of a genetically confirmed as AEC syndrome.