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.
authors.affiliation: Division of Reproductive Endocrinology & Infertility, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
authors.forename: A R
authors.initials: AR
authors.lastname: Thornhill
authors.forename: S J
authors.initials: SJ
authors.lastname: Pickering
authors.forename: N V
authors.initials: NV
authors.lastname: Whittock
authors.forename: J
authors.initials: J
authors.lastname: Caller
authors.forename: V
authors.initials: V
authors.lastname: Andritsos
authors.forename: H E
authors.initials: HE
authors.lastname: Bickerstaff
authors.forename: A H
authors.initials: AH
authors.lastname: Handyside
authors.forename: R A
authors.initials: RA
authors.lastname: Eady
authors.forename: P R
authors.initials: PR
authors.lastname: Braude
authors.forename: J A
authors.initials: JA
authors.lastname: McGrath
mesh_terms: D001706:Biopsy; D046508:Culture Techniques; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D004476:Ectodermal Dysplasia / Q000235:genetics*; D004622:Embryo, Mammalian; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D051191:Plakophilins; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D019836:Preimplantation Diagnosis; D011506:Proteins / Q000235:genetics*; D015183:Restriction Mapping; D017422:Sequence Analysis, DNA; D012871:Skin Diseases / Q000235:genetics*
chemical_list: C495335:PKP1 protein, human; D051191:Plakophilins; D011506:Proteins; C035042:endodeoxyribonuclease FokI; C040836:CTAG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific