Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome

Mutations in the p63 gene have recently been delineated as the molecular ba sis 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 h eterozygous germline missense mutation, R304W, in exon 8 of the p63 gene. A s with most other p63 mutations in EEC syndrome, this mutation has arisen d e novo and is located within the core DNA-binding domain of p63. Identifica tion of this mutation has implications for genetic counselling and the feas ibility of future DNA-based prenatal diagnosis in this individual.