Neonatal Med.  2017 Nov;24(4):192-196. 10.5385/nm.2017.24.4.192.

A Case of Ankyloblepharon-Ectodermal Defect-Cleft Lip and/or Palate (AEC) Syndrome with Missense Mutation in TP63 1657(th)

• Kim YS
• Hwang TH
• Park SJ
• Lee HJ
• Kim SH
• Kim CH
• Lee JH
• Lee JS
• Choi S

• KMID: 2396836
• DOI: http://doi.org/10.5385/nm.2017.24.4.192

Abstract

Ankyloblepharon-ectodermal defects-cleft lip and/or palate (AEC) syndrome, also known as Hay-Wells syndrome, is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia. It is caused by mutations in p63 gene. Six isoforms are generated from the TP63 gene mutation and the main isoform expressed in postnatal skin is Np63a, which functions as a key regulator of epidermal integrity. We have experienced a 1-day-old female baby with skin erosions, ankyloblepharosis, and cleft palate that require treatment for skin care and feeding difficulties. Missense mutation in TP63 1657(th) T → A transition was found in the genetic test performed in the patient, and this genotype has not been reported in a previously variant. The patient was found dead at 91days of birth and the cause of death was estimated by aspiration.

Keyword

Hay-Wells syndrome; Cleft palate; Ectodermal dysplasia

MeSH Terms

Cause of Death
Cleft Palate
Ectodermal Dysplasia
Female
Genotype
Humans
Lip*
Mutation, Missense*
Palate*
Parturition
Protein Isoforms
Skin
Skin Care
Protein Isoforms