Korean J Perinatol.
2011 Dec;22(4):367-371.
AEC Syndrome Confirmed by Genetic Study in Neonate: A Case Report
- Affiliations
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- 1Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. yschang@skku.edu
- 2Department of Laboratory Medicine and Genetics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.
- 3Department of Pediatrics, Ilsan Paik Hospital, Inje University School of Medicine, Seoul, Korea.
- 4Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
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.
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