title: Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome.
abstract: Mutations in the p63 gene have recently been delineated as the molecular basis for some cases of the ectrodactyly, ectodermal dysplasia and cleft lip/palate (EEC) syndrome, an autosomal dominant disorder (MIM 129900). In this report, we describe a 35-year-old woman with EEC syndrome and document a heterozygous germline missense mutation, R304W, in exon 8 of the p63 gene. As with most other p63 mutations in EEC syndrome, this mutation has arisen de novo and is located within the core DNA-binding domain of p63. Identification of this mutation has implications for genetic counselling and the feasibility of future DNA-based prenatal diagnosis in this individual.
authors.affiliation: Department of Cell and Molecular Pathology, St John's Institute of Dermatology, The Guy's King's College and St Thomas' Hospitals' Medical School. St Thomas' Hospital, London, UK.
authors.forename: V
authors.initials: V
authors.lastname: Wessagowit
authors.forename: J E
authors.initials: JE
authors.lastname: Mellerio
authors.forename: A C
authors.initials: AC
authors.lastname: Pembroke
authors.forename: J A
authors.initials: JA
authors.lastname: McGrath
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D016158:Genes, p53; D018095:Germ-Line Mutation; D006801:Humans; D020125:Mutation, Missense; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*