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 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...

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Veröffentlicht in:	Prenatal diagnosis 2000-12, Vol.20 (13), p.1055-1062
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biopsy Culture Techniques Deoxyribonucleases, Type II Site-Specific - metabolism Ectodermal Dysplasia - genetics Embryo, Mammalian Female Heterozygote Humans Male Plakophilins Point Mutation Polymerase Chain Reaction Preimplantation Diagnosis preimplantation genetic diagnosis Proteins - genetics Restriction Mapping Sequence Analysis, DNA single cell PCR skin disease Skin Diseases - genetics
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Zusammenfassung:	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.
ISSN:	0197-3851 1097-0223
DOI:	10.1002/1097-0223(200012)20:13<1055::AID-PD978>3.0.CO;2-#