The p63 gene in EEC and other syndromes

• Published in: Journal of medical genetics Vol. 39; no. 6; pp. 377 - 381
• Main Authors: Brunner, H G, Hamel, B C J, van Bokhoven, H
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.06.2002; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: acro-dermato-ungual-lacrimal-tooth syndrome; ADULT; AEC; AER; Amino acids; and clefting; and nail dysplasia syndrome; ankyloblepharon; apical ectodermal ridge; Biological and medical sciences; CHANDS; cleft lip/palate; CLPED1; Congenital Abnormalities - diagnosis; Congenital Abnormalities - genetics; curly hair; Deoxyribonucleic acid; Dermatology; DNA; DNA-Binding Proteins; ectodermal dysplasia; Ectodermal Dysplasia - genetics; ectodermal dysplasia syndrome; ectrodactyly; EEC; EEC syndrome; facial clefting; Foot Deformities, Congenital - genetics; Genes; Genes, Tumor Suppressor; Genetic testing; Genotype; Hair and nails disorders; Hand Deformities, Congenital - genetics; Humans; lacrimo-auriculo-dento-digital syndrome; LADD; limb-mammary syndrome; LMS; Medical sciences; Membrane Proteins; Mouth Abnormalities - genetics; Mutation; p63 gene; Patients; Phenotype; Phosphoproteins - genetics; Proteins; Review; Rodents; SAM; SHFM; split hand/foot malformation; sterile alpha motif; Syndrome; Trans-Activators - genetics; Transcription Factors; Tumor Suppressor Proteins; Human; Hair; Skin disease; Family study; Congenital disease; Hand; Protein; Ectodermal dysplasia; Foot; Loss function; Gene; Malformation; Autosomal character; Limb; Adult; Dominant character; Mammary gland; Mutation; Sweat gland disease; EEC syndrome
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.39.6.377

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.