Medicine and Health Sciences Commons^™

Analysis Of The P63 Gene In Classical Eec Syndrome, Related Syndromes, And Non-Syndromic Orofacial Clefts, L. L. Barrow, H. Van Bokhoven, Sandra Daack-Hirsch, T. Andersen, S. E. Van Beersum, R. Gorlin, J. C. Murray

Sandra Daack-Hirsch

EEC syndrome is an autosomal dominant disorder with the cardinal signs of ectrodactyly, ectodermal dysplasia, and orofacial clefts. EEC syndrome has been linked to chromosome 3q27 and heterozygous p63 mutations were detected in unrelated EEC families. In addition, homozygous p63 null mice exhibit craniofacial abnormalities, limb truncations, and absence of epidermal appendages, such as hair follicles and tooth primordia. In this study, we screened 39 syndromic patients, including four with EEC syndrome, five with syndromes closely related to EEC syndrome, and 30 with other syndromic orofacial clefts and/or limb anomalies. We identified heterozygous p63 mutations in three unrelated cases of …