Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome
- 1 September 2000
- journal article
- research article
- Published by Oxford University Press (OUP) in Clinical and Experimental Dermatology
- Vol. 25 (5) , 441-443
- https://doi.org/10.1046/j.1365-2230.2000.00683.x
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.Keywords
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