title: ADULT syndrome due to an R243W mutation in TP63.
abstract: Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare, autosomal dominant form of ectodermal dysplasia due to TP63 mutations. ADULT syndrome is much less common than the more classical forms of TP63-associated ectodermal dysplasias, such as ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome and ankyloblepharon-ectodermal defects-cleft lip/palate syndrome. ADULT syndrome is characterized by ectrodactyly, syndactyly, and excessive freckling, in addition to more typical ectodermal defects, including hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. Unlike some of the other TP63-associated ectodermal dysplasias, ADULT syndrome lacks clefting and ankyloblepharon. Here, we report a three-generation family with ADULT syndrome due to an R243W mutation in TP63, a mutation that has previously been described in one patient with ADULT syndrome and eight unrelated patients with EEC syndrome.
authors.affiliation: Departments of Internal Medicine and Pediatrics, Division of Dermatology and Division of Genetics and Genomic Medicine, Washington University School of Medicine and St Louis Children's Hospital, St Louis, MO 63110, USA. dberk@dom.wustl.edu
authors.forename: David R
authors.initials: DR
authors.lastname: Berk
authors.forename: Nicole L
authors.initials: NL
authors.lastname: Armstrong
authors.forename: Marwan
authors.initials: M
authors.lastname: Shinawi
authors.forename: Alison J
authors.initials: AJ
authors.lastname: Whelan
mesh_terms: D000848:Anodontia / Q000235:genetics*; D044383:Black People; D001940:Breast / Q000002:abnormalities; D002648:Child; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D007767:Lacrimal Duct Obstruction / Q000235:genetics*; D017880:Limb Deformities, Congenital / Q000235:genetics*; D009154:Mutation; D009264:Nails, Malformed / Q000235:genetics*; D010859:Pigmentation Disorders / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C115051:TP63 protein, human; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins