The p63 gene in EEC and other syndromes. Issue 6 (1st June 2002)

• Record Type: Journal Article
• Authors: Brunner, H G; Hamel, B C J; van Bokhoven, H
• Is Part Of: Journal of medical genetics. Volume 39:Issue 6(2002)
• Page Start: 377
• Page End: 381
• Publication Date: 2002-06-01
• Subjects: EEC syndrome -- p63 gene; EEC, ectrodactyly, ectodermal dysplasia, facial clefting -- LADD, lacrimo-auriculo-dento-digital syndrome -- ADULT, acro-dermato-ungual-lacrimal-tooth syndrome -- SHFM, split hand/foot malformation -- AEC, ankyloblepharon, ectodermal dysplasia, and clefting -- SAM, sterile alpha motif -- LMS, limb-mammary syndrome -- CHANDS, curly hair, ankyloblepharon, and nail dysplasia syndrome -- CLPED1, cleft lip/palate, ectodermal dysplasia syndrome -- AER, apical ectodermal ridge; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.39.6.377
• Languages: English
• ISSNs: 1468-6244

Abstract

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.