Abstract
A new form of genodermatosis resulting from mutations in the gene plakophilin 1 (PKP1) has recently been identified. The clinical features of a functional knockout of PKP1 are a combination of skin fragility and a form of hypohydrotic ectodermal dysplasia. We have developed a single cell polymerase chain reaction (PCR) assay suitable for preimplantation genetic diagnosis (PGD) and here we report on the clinical application of this assay.
Copyright 2000 John Wiley & Sons, Ltd.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Biopsy
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Culture Techniques
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Deoxyribonucleases, Type II Site-Specific / metabolism
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Ectodermal Dysplasia / genetics*
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Embryo, Mammalian
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Female
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Heterozygote*
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Humans
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Male
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Plakophilins
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Point Mutation*
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Polymerase Chain Reaction
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Preimplantation Diagnosis*
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Proteins / genetics*
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Restriction Mapping
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Sequence Analysis, DNA
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Skin Diseases / genetics*
Substances
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PKP1 protein, human
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Plakophilins
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Proteins
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endodeoxyribonuclease FokI
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CTAG-specific type II deoxyribonucleases
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Deoxyribonucleases, Type II Site-Specific