title: Novel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome.
abstract: Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome is a disorder resulting from anomalous embryonic development of ectodermal tissues. There is evidence that AEC syndrome is caused by mutations in the TP63 gene, which encodes the p63 protein. This is an important regulatory protein involved in epidermal proliferation and differentiation.
  
  
  
  Genome sequencing was performed in DNA from peripheral blood leukocytes of a newborn with AEC syndrome and her parents. Variants were searched in all coding exons and intron-exon boundaries of the TP63 gene.
  
  
  
  A heterozygous missense variant (NM_003722.4:c.1063G>C (p.Asp355His) was found in the newborn patient. No variants were found in either of the parents.
  
  
  
  We identified a previously unreported variant in TP63 gene which seems to be involved in the somatic malformations found in the AEC syndrome. The absence of this variant in both parents suggests that the variant appeared de novo.
authors.affiliation: a Department of Surgery and CIMUS , University of Santiago de Compostela , Santiago de Compostela , Spain.|b Service of Ophthalmology and IDIS , Complejo Hospitalario Universitario de Santiago de Compostela , Santiago de Compostela , Spain.
authors.forename: Francisco
authors.initials: F
authors.lastname: Gonzalez
authors.affiliation: c Fundación Publica Galega de Medicina Xenomica, SERGAS , Santiago de Compostela , Spain.
authors.forename: Lourdes
authors.initials: L
authors.lastname: Loidi
authors.affiliation: b Service of Ophthalmology and IDIS , Complejo Hospitalario Universitario de Santiago de Compostela , Santiago de Compostela , Spain.
authors.forename: Jose M
authors.initials: JM
authors.lastname: Abalo-Lojo
mesh_terms: D002971:Cleft Lip / Q000175:diagnosis / Q000235:genetics*; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics*; D005091:Exons; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D020125:Mutation, Missense; D014157:Transcription Factors / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C115051:TP63 protein, human; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins
keywords: AEC syndrome; TP63 gene; TP63 mutation; p63 protein; prenatal diagnosis