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이기혁 ( Gi Hyuck Lee ),권민정 ( Min Jung Kwon ),성세인 ( Se In Sung ),최영배 ( Young Bae Choi ),김진규 ( Jin Kyu Kim ),유혜수 ( Hye Soo Yoo ),김은선 ( Eun Sun Kim ),기창석 ( Chang Seok Ki ),장윤실 ( Yun Sil Chang ),박원순 ( Won S 대한주산의학회 2011 Perinatology Vol.22 No.4
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.