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

A R Thornhill, S J Pickering, N V Whittock, J Caller, V Andritsos, Bickerstaff H, A H Handyside, R A J Eady, P R Braude, J A McGrath

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21 Citations (Scopus)

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 (C) 2000 John Wiley & Sons, Ltd.
Original languageEnglish
Pages (from-to)1055 - 1062
Number of pages8
JournalPrenatal Diagnosis
Volume20
Issue number13
DOIs
Publication statusPublished - 2000

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