title: The p63 gene in EEC and other syndromes.
abstract: Several autosomal dominantly inherited human syndromes have recently been shown to result from mutations in the p63 gene. These syndromes have various combinations of limb malformations fitting the split hand-split foot spectrum, orofacial clefting, and ectodermal dysplasia. The p63 syndrome family includes the EEC syndrome, AEC syndrome, ADULT syndrome, limb-mammary syndrome, and non-syndromic split hand/foot malformation. The pattern of heterozygous mutations is distinct for each of these syndromes. The functional effects on the p63 proteins also vary between syndromes. In all of these syndromes, the mutation appears to have both dominant negative and gain of function effects rather than causing a simple loss of function.
authors.affiliation: University Medical Centre, Department of Human Genetics 417, Geert Grooteplein 16, 6525 GA Nijmegen, The Netherlands. H.Brunner@ANTRG.AZN.NL
authors.forename: H G
authors.initials: HG
authors.lastname: Brunner
authors.forename: B C J
authors.initials: BC
authors.lastname: Hamel
authors.forename: H
authors.initials: H
authors.lastname: Van Bokhoven
mesh_terms: D000013:Congenital Abnormalities / Q000175:diagnosis / Q000235:genetics; D004268:DNA-Binding Proteins; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005532:Foot Deformities, Congenital / Q000235:genetics*; D016147:Genes, Tumor Suppressor; D005838:Genotype; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins; D009056:Mouth Abnormalities / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D010750:Phosphoproteins / Q000235:genetics*; D013577:Syndrome; D015534:Trans-Activators / Q000235:genetics*; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins
chemical_list: C081876:CKAP4 protein, human; D004268:DNA-Binding Proteins; D008565:Membrane Proteins; D010750:Phosphoproteins; C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins