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

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

doi:10.1002/1097-0223(200012)20:13<1055::aid-pd978>3.0.co;2-%23

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

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

皮膚學科

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21 引文斯高帕斯（Scopus）

摘要

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.

原文	English
頁（從 - 到）	1055-1062
頁數	8
期刊	Prenatal Diagnosis
卷	20
發行號	13
DOIs	https://doi.org/10.1002/1097-0223(200012)20:13<1055::aid-pd978>3.0.co;2-%23
出版狀態	Published - 2000

All Science Journal Classification (ASJC) codes

婦產科
遺傳學（臨床）

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10.1002/1097-0223(200012)20:13<1055::aid-pd978>3.0.co;2-%23

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Thornhill, A. R., Pickering, S. J., Whittock, N. V., Caller, J., Andritsos, V., Bickerstaff, H. E., Handyside, A. H., Eady, R. A. J., Braude, P. R., & McGrath, J. A. (2000). 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. Prenatal Diagnosis, 20(13), 1055-1062. https://doi.org/10.1002/1097-0223(200012)20:13<1055::aid-pd978>3.0.co;2-%23

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title = "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",

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.",

author = "Thornhill, {Alan R.} and Pickering, {Susan J.} and Whittock, {Neil V.} and Jenny Caller and Vicky Andritsos and Bickerstaff, {Helen E.} and Handyside, {Alan H.} and Eady, {Robin A.J.} and Braude, {Peter R.} and McGrath, {John A.}",

year = "2000",

doi = "10.1002/1097-0223(200012)20:13<1055::aid-pd978>3.0.co;2-%23",

language = "English",

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Thornhill, AR, Pickering, SJ, Whittock, NV, Caller, J, Andritsos, V, Bickerstaff, HE, Handyside, AH, Eady, RAJ, Braude, PR & McGrath, JA 2000, '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', Prenatal Diagnosis, 卷 20, 編號 13, 頁 1055-1062. https://doi.org/10.1002/1097-0223(200012)20:13<1055::aid-pd978>3.0.co;2-%23

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T1 - Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome

T2 - A case report

AU - Thornhill, Alan R.

AU - Pickering, Susan J.

AU - Whittock, Neil V.

AU - Caller, Jenny

AU - Andritsos, Vicky

AU - Bickerstaff, Helen E.

AU - Handyside, Alan H.

AU - Eady, Robin A.J.

AU - Braude, Peter R.

AU - McGrath, John A.

PY - 2000

Y1 - 2000

N2 - 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.

AB - 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.

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AN - SCOPUS:0034507517

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Thornhill AR, Pickering SJ, Whittock NV, Caller J, Andritsos V, Bickerstaff HE 等. 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. Prenatal Diagnosis. 2000;20(13):1055-1062. doi: 10.1002/1097-0223(200012)20:13<1055::aid-pd978>3.0.co;2-%23

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

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