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

Department of Dermatology

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	1055-1062
Number of pages	8
Journal	Prenatal Diagnosis
Volume	20
Issue number	13
DOIs	https://doi.org/10.1002/1097-0223(200012)20:13<1055::aid-pd978>3.0.co;2-%23
Publication status	Published - 2000

All Science Journal Classification (ASJC) codes

Obstetrics and Gynaecology
Genetics(clinical)

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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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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.}",

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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, vol. 20, no. 13, pp. 1055-1062. https://doi.org/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. / Thornhill, Alan R.; Pickering, Susan J.; Whittock, Neil V. et al.
In: Prenatal Diagnosis, Vol. 20, No. 13, 2000, p. 1055-1062.

Research output: Contribution to journal › Article › peer-review

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AU - McGrath, John A.

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Thornhill AR, Pickering SJ, Whittock NV, Caller J, Andritsos V, Bickerstaff HE et al. 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

Abstract

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