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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
Author(s) -
Thornhill Alan R.,
Pickering Susan J.,
Whittock Neil V.,
Caller Jenny,
Andritsos Vicky,
Bickerstaff Helen E.,
Handyside Alan H.,
Eady Robin A. J.,
Braude Peter R.,
McGrath John A.
Publication year - 2000
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/1097-0223(200012)20:13<1055::aid-pd978>3.0.co;2-#
Subject(s) - ectodermal dysplasia , compound heterozygosity , medicine , dermatology , dysplasia , mutation , genetics , pathology , biology , gene
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.