EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis
| Autor: | G. Mannion, Robin A.J. Eady, Colin E. Willoughby, Takahiro Hamada, Vesarat Wessagowit, I.H. Ellis, Andrew P. South, John A. McGrath, Takashi Hashimoto, G H S Ashton, O Bleck |
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| Rok vydání: | 2002 |
| Předmět: |
Adult
Male Ectodermal dysplasia Ectrodactyly Genetic counseling DNA Mutational Analysis Mutation Missense Prenatal diagnosis Dermatology Biology Gene mutation medicine.disease_cause law.invention Exon Ectodermal Dysplasia law Prenatal Diagnosis medicine Humans Abnormalities Multiple Genes Tumor Suppressor Genetic Testing Child Germ-Line Mutation Polymerase chain reaction Genetics Mutation Tumor Suppressor Proteins Membrane Proteins Syndrome Middle Aged Toes Phosphoproteins medicine.disease Pedigree DNA-Binding Proteins stomatognathic diseases Trans-Activators Female Transcription Factors |
| Zdroj: | British Journal of Dermatology. 146:216-220 |
| ISSN: | 1365-2133 0007-0963 |
| DOI: | 10.1046/j.1365-2133.2002.04638.x |
| Popis: | SummaryBackground Germline mis-sense mutations in the DNA-binding domain of the p63 gene have recently been established as the molecular basis for the autosomal dominant EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome. Objectives To examine genomic DNA from a 36-year-old woman, her 58-year-old father and her 11-year-old son, all with the EEC syndrome, to determine the inherent p63 mutation and, after genetic counselling, to use knowledge of the mutation to undertake a first-trimester DNA-based prenatal diagnosis in a subsequent pregnancy. Methods Fetal DNA was extracted from chorionic villi and used to amplify exon 7 of p63 containing the potential mutation. Direct sequencing and restriction endonuclease digestion (loss of AciI site on mutant allele) were used for DNA-based prenatal diagnosis. Results We identified a heterozygous arginine to histidine p63 mutation, R279H, in all three affected individuals. Prenatal diagnosis demonstrated a homozygous wild-type sequence predicting an unaffected child: a healthy boy was subsequently born at full-term. Conclusions These data expand the p63 gene mutation database and provide the first example of a DNA-based prenatal test in this ectodermal dysplasia syndrome. |
| Databáze: | OpenAIRE |
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