Preimplantation genetic diagnosis of skin fragility-ectodermal dysplasia syndrome

British Journal of Dermatology

Volumn 154, Issue 3, 2006, Pages 546-550

  Fassihi, H ^b   Grace, J ^a   Lashwood, A ^a   Whittock, N V ^b   Braude, P R ^a   Pickering, S J ^a   McGrath, J A ^b  

^a GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^b ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

Desmosome; Frozen embryo replacement cycle; Genetic skin disease; Plakophilin 1

Indexed keywords

DNA;

ARTICLE; CRYOPRESERVATION; DELIVERY; ECTODERMAL DYSPLASIA; EMBRYO; GENE MUTATION; GENETICS; GENODERMATOSIS; GENOTYPE; HUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PREGNANCY; PREGNANCY RATE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SKIN DISEASE; SKIN FRAGILITY; SPONTANEOUS ABORTION; TRISOMY; TRISOMY 22; UMBILICAL CORD BLOOD;

ADULT; BASE SEQUENCE; CRYOPRESERVATION; ECTODERMAL DYSPLASIA; EMBRYO TRANSFER; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MOLECULAR SEQUENCE DATA; PLAKOPHILINS; POLYMERASE CHAIN REACTION; PREGNANCY; PREIMPLANTATION DIAGNOSIS;

EID: 33644917428     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2005.07102.x     Document Type: Article

References (26)

1. McGrath JA McMillan JR Shemanko CS et al. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome Nat Genet 1997 17 240 4
2. South AP Wan H Stone MG et al. Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability J Cell Sci 2003 116 3303 14
3. South AP Plakophilin 1: an important stabilizer of desmosomes Clin Exp Dermatol 2004 29 161 7
4. Schmidt A Heid HW Schafer S et al. Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components Cell Tiss Res 1997 290 481 99
5. McGrath JA A novel genodermatosis caused by mutations in plakophilin 1, a structural component of desmosomes J Dermatol 1999 26 764 9
6. Whittock NV Haftek M Angoulvant N et al. Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome J Invest Dermatol 2000 115 368 74
7. Hamada T South AP Mitsuhashi Y et al. Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1 Exp Dermatol 2002 11 107 14
8. Sprecher E Molho-Pessach V Ingber A et al. Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families J Invest Dermatol 2004 122 647 51
9. Steijlen PM van Steensel MA Jansen BJ et al. Cryptic splicing at a non-consensus splice-donor in a patient with a novel mutation in the plakophilin-1 gene J Invest Dermatol 2004 122 1321 4
10. Thornhill AR Pickering SJ Whittock NV 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 Prenat Diagn 2000 20 1055 62
11. McGrath JA Hoeger PH Christiano AM et al. Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1 Br J Dermatol 1999 140 297 307
12. El-Toukhy T Khalaf Y Al-Darazi K et al. Effect of blastomere loss on the outcome of frozen embryo replacement cycles Fertil Steril 2003 79 1106 11
13. Lassalle B Testart J Renard JP Human embryo features that influence the success of cryopreservation with the use of 1,2 propanediol Fertil Steril 1985 44 645 51
14. El-Toukhy T Taylor A Khalaf Y et al. Pituitary suppression in ultrasound-monitored frozen embryo replacement cycles. A randomised study Hum Reprod 2004 19 874 9
15. Handyside AH Kontogianni EH Hardy K et al. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification Nature 1990 344 768 70
16. Sermon K Moutou C Harper J et al. ESHRE PGD Consortium data collection IV: May-December 2001 Hum Reprod 2005 20 19 34
17. Cserhalmi-Friedman PB Tang Y Adler A et al. Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa Exp Dermatol 2000 9 290 7
18. Magli MC Gianaroli L Fortini D et al. Impact of blastomere biopsy and cryopreservation techniques on human embryo viability Hum Reprod 1999 14 770 3
19. Joris H van den Abbeel E Vos AD van Steirteghem A Reduced survival after human embryo biopsy and subsequent cryopreservation Hum Reprod 1999 14 2833 7
20. Ciotti PM Lagalla C Ricco AS et al. Micromanipulation of cryopreserved embryos and cryopreservation of micromanipulated embryos in PGD Mol Cell Endocrinol 2000 169 63 7
21. Pickering S Polidoropoulos N Caller J et al. Strategies and outcomes of the first 100 cycles of preimplantation genetic diagnosis at the Guy's and St Thomas' Centre Fertil Steril 2003 79 81 90
22. Munne S Magli C Cohen J et al. Positive outcome after preimplantation diagnosis of aneuploidy in human embryos Hum Reprod 1999 14 2191 9
23. Jericho H Wilton L Gook DA et al. A modified cryopreservation method increases the survival of human biopsied cleavage stage embryos Hum Reprod 2003 18 568 71
24. Wells D Advances in preimplantation genetic diagnosis Eur J Obstet Gynecol Reprod Biol 2004 115 Suppl. 1 S97 101
25. Jones HW Jr. Out HJ Hoomans EH et al. Cryopreservation: the practicalities of evaluation Hum Reprod 1997 12 1522 4
26. Cohen J Jones HW Jr. How to avoid multiple pregnancies in assistive reproductive technologies Semin Reprod Med 2001 19 269 78