Ankyloblepharon-ectodermal dysplasia-clefting syndrome: a novel p63 mutation associated with generalized neonatal erosions.
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.
Sawardekar
Shilpa S
SS
Penn State University College of Medicine, Pennsylvania, USA.
Zaenglein
Andrea L
AL
D001706:Biopsy; D002971:Cleft Lip / Q000235:genetics* / Q000473:pathology*; D002972:Cleft Palate / Q000235:genetics* / Q000473:pathology*; D003872:Dermatitis / Q000235:genetics / Q000473:pathology; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000473:pathology*; D005124:Eye Abnormalities / Q000235:genetics* / Q000473:pathology*; D005143:Eyelids / Q000002:abnormalities / Q000473:pathology; D005145:Face / Q000473:pathology; D019066:Facies; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D017354:Point Mutation; D012535:Scalp / Q000473:pathology
C081876:CKAP4 protein, human; D008565:Membrane Proteins