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GENATLAS PHENOTYPE
last update : 08-07-2015
Symbol AEC
Location 3q28
Name ankyloblepharon-ectodermal dysplasia-clefting syndrome
Other name(s) Hay-Wells syndrome
Corresponding gene TP63
Main clinical features
  • characterized by congenital ectodermal dysplasia with coarse, wiry, sparse hair, dystrophic nails, slight hypohidrosis, scalp infections, ankyloblepharon filiforme adnatum, hypodontia, maxillary hypoplasia and cleft lip/palate
  • skin erosions, especially those of the scalp, were identified as the most challenging cutaneous aspect of this syndrome (PMID: 19681128))
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    eye
    Type disease
    Gene product
    Name tumor protein p73-like (TP63)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function L514S and R555P amino acid substitutions within the sterile alpha motif region
    Remark(s)
  • impaired epidermal differentiation observed in AEC syndrome might result both from the persistence of a deficit programmed during development and from TP63-mutant-mediated disruption of differentiation in developmentally mature tissue (PMID: 22922031))
  • restoring ZNF750 expression in AEC model tissue can rescue defects in differentiation caused by AEC mutant TP63 (PMID: 22922031))
  • TP63 is a crucial regulator of a subset of desmosomal genes and this function is impaired in AEC syndrome (PMID: 23108156))