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Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report

✍ Scribed by Alan R. Thornhill; Susan J. Pickering; Neil V. Whittock; Jenny Caller; Vicky Andritsos; Helen E. Bickerstaff; Alan H. Handyside; Robin A. J. Eady; Peter R. Braude; John A. McGrath

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 253 KB
Volume: 20
Category: Article
ISSN: 0197-3851
DOI: 10.1002/1097-0223(200012)20:13<1055::aid-pd978>3.0.co;2-#

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✦ Synopsis

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.