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: V Wessagowit, J E Mellerio, A C Pembroke, J A McGrath
• Journal: Clinical and experimental dermatology (Clin Exp Dermatol) Vol. 25 Issue 5 Pg. 441-3 (Jul 2000) ISSN: 0307-6938 [Print] England
• PMID: 11012604 (Publication Type: Comparative Study, Journal Article)

Topics

• Abnormalities, Multiple (genetics)
• Adult
• Cleft Lip (genetics)
• Cleft Palate (genetics)
• Ectodermal Dysplasia (genetics)
• Female
• Fingers (abnormalities)
• Genes, p53
• Germ-Line Mutation
• Humans
• Mutation, Missense
• Syndrome
• Toes (abnormalities)