Ankyloblepharon-ectodermal dysplasia-clefting syndrome

A novel p63 mutation associated with generalized neonatal erosions

Shilpa S. Sawardekar, Andrea Zaenglein

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome is a rare disorder characterized by ankyloblepharon (congenital adhesions of the eyelids), ectodermal dysplasia, and orofacial clefts. Here, we report the case of an infant born with severe ectodermal dysplasia including generalized neonatal erosions with scalp involvement, facial clefting but notably without ankyloblepharon. Mutational analysis of the p63 gene showed a novel heterozygous T>C nucleotide substitution on exon 14 (I597T). To our knowledge, this is a novel mutation that has not previously been reported in the pathogenesis of AEC, or other p63-related syndromes. This case further highlights the clinical and genetic heterogeneity of p63 syndromes.

Original languageEnglish (US)
Pages (from-to)313-317
Number of pages5
JournalPediatric Dermatology
Volume28
Issue number3
DOIs
StatePublished - May 1 2011

Fingerprint

Ectodermal Dysplasia
Mutation
Genetic Heterogeneity
Eyelids
Scalp
Exons
Nucleotides
Genes

All Science Journal Classification (ASJC) codes

  • Dermatology
  • Pediatrics, Perinatology, and Child Health

Cite this

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abstract = "Ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome is a rare disorder characterized by ankyloblepharon (congenital adhesions of the eyelids), ectodermal dysplasia, and orofacial clefts. Here, we report the case of an infant born with severe ectodermal dysplasia including generalized neonatal erosions with scalp involvement, facial clefting but notably without ankyloblepharon. Mutational analysis of the p63 gene showed a novel heterozygous T>C nucleotide substitution on exon 14 (I597T). To our knowledge, this is a novel mutation that has not previously been reported in the pathogenesis of AEC, or other p63-related syndromes. This case further highlights the clinical and genetic heterogeneity of p63 syndromes.",
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Ankyloblepharon-ectodermal dysplasia-clefting syndrome : A novel p63 mutation associated with generalized neonatal erosions. / Sawardekar, Shilpa S.; Zaenglein, Andrea.

In: Pediatric Dermatology, Vol. 28, No. 3, 01.05.2011, p. 313-317.

Research output: Contribution to journalArticle

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