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

Prenat Diagn. 2000 Dec;20(13):1055-62. doi: 10.1002/1097-0223(200012)20:13<1055::aid-pd978>3.0.co;2-#.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 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*
  • Proteins / genetics*
  • Restriction Mapping
  • Sequence Analysis, DNA
  • Skin Diseases / genetics*

Substances

  • PKP1 protein, human
  • Plakophilins
  • Proteins
  • endodeoxyribonuclease FokI
  • CTAG-specific type II deoxyribonucleases
  • Deoxyribonucleases, Type II Site-Specific