AEC Syndrome Confirmed by Genetic Study in Neonate: A Case Report.
- Author:
Gihyuck LEE
1
;
Min Jung KWON
;
Se In SUNG
;
Young Bae CHOI
;
Jin Kyu KIM
;
Hye Soo YOO
;
Eun Sun KIM
;
Chang Seok KI
;
Yun Sil CHANG
;
Won Soon PARK
Author Information
1. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. yschang@skku.edu
- Publication Type:Case Report
- Keywords:
Hay-Wells syndrome;
TP63;
Ectodermal dysplasia;
Cleft lip/palate;
Newborn
- MeSH:
Cleft Lip;
Cleft Palate;
Clinical Coding;
Dermatitis;
Ectodermal Dysplasia;
Eye Abnormalities;
Eyelids;
Hair;
Humans;
Infant, Newborn;
Mutation, Missense;
Nails;
Palate;
Parents;
Parturition;
Scalp;
Sequence Analysis
- From:Korean Journal of Perinatology
2011;22(4):367-371
- CountryRepublic of Korea
- Language:Korean
-
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.
