title: An intermediate phenotype between Hay-Wells and Rapp-Hodgkin syndromes in a patient with a novel P63 mutation: confirmation of a variable phenotypic spectrum with a common aetiology.
abstract: The ankyloblepharon-ectodermal defects-cleft lip and palate (Hay-Wells or AEC) and the Rapp-Hodgkin syndrome (RHS) are rare autosomal dominant ectodermal dysplasias due to mutations in the transcription factor gene P63. Both are caused by mutations affecting SAM or TID domains of TP63 protein. The two disorders share common features and may represent different phenotypic expressions of the same clinical entity. To date more than 20 P63 mutations have been described associated with AEC and RHS, the majority of which are missense or nonsense mutations. Molecular heterogeneity cannot account for the clinical heterogeneity, because the same mutations were observed both in patient with RHS and with AEC syndrome. Here we report on a novel P63 mutation (the first repeat variation described in the gene) in a patient showing overlapping phenotype of AEC and RH syndromes.
authors.affiliation: University of Perugia, Department of Clinical and Experimental Medicine, Medical Genetics Unit, Perugia, Italy. pprontera@hotmail.com
authors.forename: P
authors.initials: P
authors.lastname: Prontera
authors.forename: F
authors.initials: F
authors.lastname: Escande
authors.forename: G
authors.initials: G
authors.lastname: Cocchi
authors.forename: E
authors.initials: E
authors.lastname: Donti
authors.forename: A
authors.initials: A
authors.lastname: Martini
authors.forename: A
authors.initials: A
authors.lastname: Sensi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D003062:Codon; D018389:Codon, Nonsense / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004252:DNA Mutational Analysis; D004476:Ectodermal Dysplasia / Q000235:genetics*; D016368:Frameshift Mutation / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics*; D006580:Genetic Carrier Screening; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007859:Learning Disabilities / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D010641:Phenotype; D013577:Syndrome; D015534:Trans-Activators / Q000235:genetics*; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D003062:Codon; D018389:Codon, Nonsense; C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins