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 chain reaction (PCR) assay suitable for preimplantation genetic diagnosis (PGD) and here we report on the clinical application of this assay.
Thornhill
A R
AR
Division of Reproductive Endocrinology & Infertility, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
Pickering
S J
SJ
Whittock
N V
NV
Caller
J
J
Andritsos
V
V
Bickerstaff
H E
HE
Handyside
A H
AH
Eady
R A
RA
Braude
P R
PR
McGrath
J A
JA
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*
C495335:PKP1 protein, human; D051191:Plakophilins; D011506:Proteins; C035042:endodeoxyribonuclease FokI; C040836:CTAG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific