Preimplantation genetic diagnosis of severe inherited skin diseases

Experimental Dermatology

Volumn 7, Issue 2-3, 1998, Pages 65-72

  McGrath, A ^a   Handyside, J A ^a  

^a ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

Embryo; Genodermatoses; Prenatal diagnosis

Indexed keywords

CONGENITAL SKIN DISEASE; DNA DETERMINATION; EMBRYO; FETUS; HUMAN; PREIMPLANTATION EMBRYO; PRENATAL DIAGNOSIS; REVIEW; SECOND TRIMESTER PREGNANCY; SKIN BIOPSY;

EID: 0031953767     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0625.1998.tb00305.x     Document Type: Review

References (53)

1. Christiano A M, Uitto J. Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa. Exp Dermatol 1996: 5: 1-11.
2. Eady R A J, Holbrook K A, Blanchet-Bardon C et al. Prenatal diagnosis of skin diseases. In: Burgdorf W H C, Katz S I, eds. Dermatology: Progress & Perspectives. The proceedings of the 18th World Congress of Dermatology. Carnforth, Lanes, UK: The Pantheon Publishing Group: 1993: 1159-1165.
3. McGrath J A, Kivirikko S, Ciatti S et al. A homozygous nonsense mutation in the ct3 chain gene of laminin 5 (LAMAS) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk. Genomics 1995: 29: 282-284.
4. Vailly J, Pulkkinen L, Miquel C et al. Identification of a homozygous one-base pair deletion in exon 14 of the LAMBS gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence. J Invest Dermatol 1995: 104: 462-466.
5. Christiane A M, Pulkkinen L, McGrath J A, Uitto J. Mutation based prenatal diagnosis of Herlitz junctional epidermolysis bullosa. Prenat Diagn 1997: 17: 343-354.
6. Hovnanian A, Hilal L, Blanchet-Bardon C et al. DNA-based prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa in six pregnancies at risk for recurrence. J Invest Dermatol 1995: 104: 456-461.
7. McGrath J A, Dunnill M G, Christiano A M et al. First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling. Br J Dermatol 1996: 134: 734-739.
8. Christiano A M, LaForgia S, Palier A S, McGuire J, Shimizu H, Uitto J. Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1). Mol Med 1996: 2: 59-76.
9. Rugg E L, Shemanko C S, Magee G J, Batty D, Boxer M, Lane E B. Taking epidermolysis bullosa simplex from mutation analysis to prenatal diagnosis. J Invest Dermatol 1997: 108: 597 (Abstract).
10. Rothnagel J A, Longley N A, Holder R A, Küster W, Roop D R. Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing. J Invest Dermatol 1994: 102: 13-16.
11. Shimizu H, Niizeki H, Suzumori K et al. Prenatal diagnosis of oculocutaneous albinism by analysis of the fetal tyrosinase gene. J Invest Dermatol 1994: 103: 104-106.
12. Falik-Borenstein T C, Holmes S A, Borochowitz Z, Levin A, Rosenmann A, Spritz R A. DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1 A). Prenat Diagn 1995: 15: 345-349.
13. Bunge S, Steglich C, Lorenz P et al. Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47, XXY male heterozygous for a missense point mutation. Prenat Diagn 1994: 14: 777-780.
14. McLean W H I, Pulkkinen L, Smith F J D et al. Loss of plectin (HD1) causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organisation. Genes Dev 1996: 10: 1724-1735.
15. Smith F J D, Eady RAJ, Leigh I M et al. Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat Genet 1996: 13: 450-456.
16. Vidai F, Aberdam D, Miquel C et al. Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet 1995: 10: 229-234.
17. Pulkkinen L, Kimonis V E, Xu Y, Spanou E N, McLean W H I, Uitto J. Homozygous 05 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia. Hum Mol Genet 1997: 6: 669-674.
18. De Laurenzi V, Rogers G R, Hamrock D J et al. Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nat Genet 1996: 12: 52-57.
19. Schwartz M, Bekassy A, Donner M et al. Mutation spectrum in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia: identification of 12 different mutations in the WASP gene. Thromb Haemost 1996: 75: 546-550.
20. Nagle D L, Karim M A, Woolf E A et al. Identification and mutation analysis of the complete gene for ChediakHigashi syndrome. Nat Genet 1996: 14: 307-311.
21. McLean W H I, Rugg E L, Lunny D P et al. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet 1995: 9: 273-278.
22. Smith F J, Corden L D, Rugg E L et al. Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resmbling steatocystoma multiplex. J Invest Dermatol 1997: 108: 220-223.
23. Eng C M, Desnick R J. Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. Hum Mutât 1994: 3: 103-111.
24. McGrath J A, McMillan J R, Shemanko C S et al. Mutations in plakophilin 1 result in novel ectodermal dysplasia/ skin fragility syndrome. Nat Genet 1997: 17: 240-244.
25. Huber M, Rettier I, Bernasconi K et al. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 1995: 267: 525-528.
26. Russell L J, Di Giovanna J J, Rogers G R et al. Mutations in thé gène for transglutaminase I in autosomal récessive lamellar ichthyosis. Nat Genet 1995: 9: 279-283.
27. Kere J, Srivastava A K, Montonen O et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutations in a novel transmembrane protein. Nat Genet 1996: 13: 409-416.
28. Savary J B, Vasseur F, Deminatti M M. Routine autoradiographie analysis of DNA excision-repair. Report of prenatal and postnatal diagnosis in 11 families. Ann Genet 1991: 34: 76-81.
29. Alapetite C, Benoît A, Moustacchi E, Sarasin A. The comet assay as a repair test for prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy. J Invest Dermatol 1997: 108: 154-159.
30. Dunnill M G, Richards A J, Milana G, Mollica F, Eady R A, Pope F M. Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa. J Med Genet 1995: 32: 749-750.
31. Handyside A H, Delhanty J D A. Preimplantation genetic diagnosis: strategies and surprises. Trends Genet 1997: 13: 270-275.
32. Hardy K, Martin K L, Leese H J, Winston R M L. Human preimplantation development in vitro is not adversely affected by biopsy at the 8 cell stage. Hum Reprod 1990: 5: 708-714.
33. Delhanty J D, Griffin D K, Handyside A H et al. Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in situ hybridisation (FISH). Hum Mol Genet 1993: 2: 1183-1185.
34. Zhang L, Cui X, Schmitt K, Hubert R, Navidi W, Arnheim N. Whole genome amplification from a single cell: implications for genetic analysis. Proc Natl Acad Sci USA 1992: 89: 5847-5851.
35. Sermon K, Lissens W, Joris H, Van Steirteghem A, Liebaers I. Adaptation of the primer extension preamplification (PEP) reaction for preimplantation diagnosis: single blastomere analysis using short PEP protocols. Mol Hum Reprod 1996: 2: 209-212.
36. Ao A, Wells D, Handyside A H, Winston R M L, Delhanty J D A. Preimplantation diagnosis of familial adenomatous polyposis. J Assist Reprod Genet: 1998 (in press).
37. Findlay I, Ray P, Quirke P, Rutherford A, Lilford R. Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis. Hum Reprod 1995: 10: 1609-1618.
38. Handyside A H, Scriven P, Mackie Ogilvie C. The future of preimplantation genetic diagnosis. Hum Reprod 1998: in press.
39. Handyside A H, Lesko J G, Tarin J J, Winston R M, Hughes M R. Birth of a normal girl after in vitro fertilization and preimplantation genetic testing for cystic fibrosis. N Engl J Med 1992: 327: 905-909.
40. Fine J-D, Bauer E, Briggaman R et al. Revised clinical and laboratory criteria for subtypes of epidermolysis bullosa: a consensus report by the subcommittee on diagnosis and classification of the National Epidermolysis Bullosa Registry. J Am Acad Dermatol 1991: 24: 119-135.
41. Avner R, Laufer N, Safran A, Kerem B S, Friedmann A, Mitrani Rosenbaum S. Preimplantation diagnosis of cystic fibrosis by simultaneous detection of the W1282X and delta F508 mutations. Hum Reprod 1994: 9: 1676-1680.
42. Gibbons W E, Gitlin S A, Lanzendorf S E, Kaufmann R A, Slotnick R N, Hodgen G D. Preimplantation genetic diagnosis for Tay-Sachs disease: successful pregnancy after pre-embryo biopsy and gene amplification by polymerase chain reaction. Fertil Steril 1995: 63: 723-728.
43. Sermon K, Lissens W, Nagy Z P, Van Steirteghem A, Liebaers I. Simultaneous amplification of the two most frequent mutations of infantile Tay-Sachs disease in single blastomeres. Hum Reprod 1995: 10: 2214-2227.
44. Ray P F, Kaeda J S, Bingham J, Roberts I, Handyside A H. Preimplantation genetic diagnosis of β-Thalassaemia major. Lancet 1996 347: 1696.
45. el-Hashemite N, Wells D, Delhanty J D. Single cell detec-tion of beta-thalassaemia mutations using silver stained SSCP analysis: an application for preimplantation diagnosis. Mol Hum Reprod 1997: 3: 693-698.
46. Lavery S A, Ao A, Lighten A, Taylor D, Winston R M L. Preimplantation diagnosis of adrenoleukodystrophy. J Assist Reprod Genet 1997: 14: 449 (Abstract).
47. Eldadah Z A, Grifo J A, Dietz H C. Marfan syndrome as a paradigm for transcript-targeted preimplantation diagnosis of heterozygous mutations. Nat Med 1995: 1: 798-803.
48. Chong S S, Almqvist E, Telenius H et al. Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses. Hum Mol Genet 1997: 6: 301309.
49. Sermon K, Goossens V, Lissens W, Seneca S, Van Steirteghem A, Liebaers I. Preimplantation genetic diagnosis for Huntington's disease. J Assist Reprod Genet 1997: 14: 465 (Abstract).
50. De Vos A, Sermon K, Van de Velde H et al. Preimplantation diagnosis for Charcot-Marie-Tooth disease type 1 A. J Assist Reprod Genet 1997: 14: 434 (Abstract).
51. Liu J, Lissens W, Van Broeckhoven C et al. Normal pregnancy after preimplantation DNA diagnosis of a dystrophin gene deletion. Prenat Diagn 1995: 15: 351-358.
52. Lee S H, Han J H, Kwak I P et al. Preimplantation genetic diagnosis of non-deletion Duchenne muscular dystrophy (DMD) by linkage PCR analysis. J Assist Reprod Genet 1997 14: 450 (Abstract).
53. Levinson G, Maddalena A, Palmer F T et al. Improved sizing of fragile X CCG repeats by nested polymerase chain reaction. Am J Med Genet 1994: 51: 527-534.