Prenatal diagnosis of inherited skin diseases

Keio Journal of Medicine

Volumn 45, Issue 1, 1996, Pages 28-36

  Shimizu, Hiroshi ^a  

^a KEIO UNIVERSITY   (Japan)

Author keywords

Albinism; Basement membrane; DNA analysis; Epidermolysis bullosa; Fetal skin biopsy

Indexed keywords

BIOPSY; EPIDERMOLYSIS BULLOSA; GENETICS; HUMAN; METHODOLOGY; OCULAR ALBINISM; PRENATAL DIAGNOSIS; REVIEW; SKIN DISEASE;

ALBINISM, OCULOCUTANEOUS; BIOPSY; EPIDERMOLYSIS BULLOSA; HUMANS; PRENATAL DIAGNOSIS; SKIN DISEASES;

EID: 0030093659     PISSN: 00229717     EISSN: None     Source Type: Journal    
DOI: 10.2302/kjm.45.28     Document Type: Review

References (55)

1. Holbrook KA, Smith LT, Elias S: Prenatal diagnosis of genetic skin disease using fetal skin biopsy samples. Arch Dermatol 1993, 129: 1437-1454
2. Anton LI, Arnold ML: Prenatal diagnosis of inherited epidermolyscs. Curr Probl Dermatol 1987, 16. 146-157
3. Eady RA, McGrath JA, McMillan JR: Ultrastructural clues to genetic disorders of skin: the dermal-epidermal junction. J Invest Dermatol 1994, 103: 13s-18s
4. Fine JD, Bauer EA, Briggaman RA, Carter DM, Eady RA, Esterly NB, Holbrook KA, Hurwitz S, Johnson L, Lin A: Revised clinical and laboratory criteria for subtypes of inherited 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
5. Heagerty AH, Kennedy AR, Gunner DB, Eady RA: Rapid prenatal diagnosis and exclusion of epidermolysis bullosa using novel antibody probes. J Invest Dermatol 1986, 86: 603-605
6. Heagerty AH, Kennedy AR, Eady RA, Hsi BL, Verrando P, Yeh CJ, Ortonne JP: GB3 monoclonal antibody for diagnosis of junctional epidermolysis bullosa. Lancet 1986, 1: 860
7. Heagerty AH, Kennedy AR, Leigh IM, Purkis P, Eady RA: Identification of an epidermal basement membrane defect in recessive forms of dystrophic epidermolysis. bullosa by LH 7:2 monoclonal antibody: use in diagnosis. Br J Dermatol 1986, 115: 125-131
8. Fine JD, Holbrook KA, Elias S, Anton LI, Rauskolb R: Applicability of 19-DEJ-1 monoclonal antibody for the prenatal diagnosis or exclusion of junctional epidermolysis bullosa. Prcnat Diagn 1990, 10: 219-229
9. McGrath JA, Schofield OM, Mayou BJ, McKee PH, Eady RA: Epidermolysis bullosa complicated by squamous cell carcinoma: report of 10 cases. J Cutan Pathol 1992, 19: 116-123
10. Hashimoto I, Gedde DT Jr. Sehnyder UW, Anton LI: Ultrastructural studies in epidermolysis buliosa hereditaria. IV. Recessive dystrophic types with junctional blistering. (Infantile or Herlitz-Pearson type and adult type). Arch Dermatol Res 1976, 257: 17-32
11. Anton LI, Rauskolb R, Jovanovic V, Kern B, Arnold ML, Schenck W: Prenatal diagnosis of epidermolysis bullosa dystrophica Hallopeau-Siemens with electron microscopy of fetal skin. Lancet 1981, 2: 1077-1079
12. Sakai LY, Keene DR, Morris NP, Burgeson RE: Type VII collagen is a major structural component of anchoring fibrils. J Cell Biol 1986, 103: 1577-1586
13. Leigh IM, Purkis PE, Biuckner-Tuderman L: LH7.2 monoclonal antibody detects type VII collagen in the sublamina densa zone of ectodermally-derived epithclia, including skin. Epithelia 1987, 1: 17-29
14. Shimizu H, McDonald JN, Gunner DB, Black MM, Bhogal B, Leigh IM, Whitehcad PC, Eady RA: Epidermolysis bullosa acquisita antigen and the carboxy terminus of type VII collagen have a common immunolocalization to anchoring fibrils and lamina densa of basement membrane. Br J Dermatol 1990, 122: 577-585
15. Shimizu H, Ishida YA, Eady RA: The use of silver-enhanced 1-nm gold probes for light and electron microscopic localization of intra- and extracellular antigens in skin. J Histochcm Cytochcm 1992, 40: 883-888
16. Shimizu H, Nishikawa T: Application of an image analyzer to gold labeling in immunoelectron microscopy to achieve better demonstration and quantitative analysis. J Histochcm Cytochem 1993, 41: 123-128
17. Shimizu H, Suzumon K, Nishikawa T: Heterogeneous reactivity with LH7.2 and the first prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa among Japanese patients. Dermatology (in press)
18. Christiano AM, Greenspan DS, Lee S, Uitto J: Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms. J Biol Chem 1994, 269: 20256-20262
19. Christiano AM, Hoffman GG, Chung Honet LC, Lee S, Cheng W, Uitto J, Greenspan DS: Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene. Genomics 1994, 21: 169-179
20. Christiano AM, Uitto J: DNA-based prenatal diagnosis of heritable skin diseases Arch Dermatol 1993, 129: 1455-1459
21. Uitto J, Pulkkinen L, Christiano AM: Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes. J Invest Dermatol 1994, 103. 39s-46s
22. Hovnanian A, Hilal L, Blanchet-Bardon C, Bodemer C, Prost Y, Stark CA, Christiano AM, Dommergues M, Terwilliger JD, Izquierdo L, Conteville P, Dumez Y, Uitto J, Goossens M: DNA-based prenatal diagnosis of generalized recessive dystrophic cpidermolysis bullosa in six pregnancies at risk for recurrence. J Invest Dermatol 1995, 104: 456-461
23. Shimizu H, Christiano AM, Uitto J, Suzumori K, Nishikawa T: DNA based prenatal diagnosis of recessive dystrophic epidermolysis bullosa: first successful application in a Japanese family. J Dermatol Sci 1995, 10: 68
24. Shimizu H, McGrath JA, Christiano AM, Nishikawa T, Uitto J: Molecular basis of recessive dystrophic epidermolysis bollosa: genotype/phenotype correlation in a case of moderate clinical severity. J Invest Dermatol (in press)
25. Rodeck CH, Eady RA, Gosden CM: Prenatal diagnosis of epidermolysis bullosa letalis. Lancet 1980, 1: 949-952
26. Shimizu H, Onodera Y, Ikeda S, Ogawa H, Suzumori K, Nishikawa T: Prenatal diagnosis of epidermolysis bullosa: first successful trial in Asia. Dermatology 1994, 188: 46-49
27. Hashimoto I, Anton LI, Meyburg P: Epidermolysis bullosa hereditaria letalis: report of a case and probable ultrastructural defects. Helv Paediatr Acta 1976, 30: 543-552
28. Verrando P, Pisani A, Ortonne JP The new basement membrane antigen recognized by the monoclonal antibody GB3 is a large size glycoprotein: modulation of its expression by retmoic acid. Biochim Biophys Acta 1988, 942: 45-56
29. Burgeson RE, Chiquet N, Deutzmann R, Ekblom P, Engel J, Kleinman H, Martin GR, Meneguzzi G, Paulsson M, Sanes J, Timpl R, Tryggvason K, Yamada Y, Yurchenko PD: A new nomenclature for laminins. Matrix Biol 1994, 14: 209-211
30. Suzumori K, Kanzaki T: Prenatal diagnosis of harlequin ichthyosis by fetal skin biopsy; report of two cases. Prenat Diagn 1991, 11: 451-457
31. Pulkkincn L, Christiano AM, Gerecke D, Wagman DW, Burgcson RE, Pittelkow MR, Uitto J: A homozygous nonsense mutation in the β3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics 1994, 24: 357-360
32. Aberdam D, Galliano MF, Vailly J, Pulkkinen L, Bonifas J, Christiano AM, Tryggvason K, Uitto J, Epstein EH Jr, Ortonne JP, Meneguzzi G: Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5). Nat Genet 1994, 6: 299-304
33. Vailly J, Pulkkinen L, Miquel C, Christiano AM, Gerecke D, Burgeson RE, Uitto J, Ortonne JP, Mcneguzzi G: Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 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
34. Nazzaro V, Nicolini U, De Luca L, Berti E, Caputo R: Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia. J Mcd Genet 1990, 27: 244-248
35. Lacour JP, Hoffman P, Bastiani GF, Boutte P, Pisani A, Ortonne JP: Lethal junctional epidermolysis bullosa with normal expression of BM 600 and antro-pyloric atresta: a new variant of junctional epidermolysis bullosa? Eur J Pediatr 1992, 151: 252-257
36. Lestringant GG, Akel SR, Qayed KI: They pyloric atresia-junctional epidermolysis bullosa syndrome Report of a case and review of the literature. Arch Dermatol 1992, 128: 1083-1086
37. Shimizu H, Fine JD, Suzumori K, Hatta N, Shozu M, Nishikawa T: Prenatal exclusion of pyloric atresia-junctional epidermolysis bullosa syndrome. J Am Acad Dermatol 1994, 31: 429-433
38. Gil SG, Brown TA, Ryan MC, Carter WG: Junctional epidermolysis bullosis: defects in expression of epiligrin/nicein/kalinin and integrin β 4 that inhibit hemidesmosome formation. J Invest Dermatol 1994, 103: 31s-38s
39. Vidal F, Aberdam D, Miquel C, Christiano AM, Pulkkinen L, Uitto J, Ortonne JP, Meneguzzi G: Integrin beta-4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nature Genet 1995, 10: 229-234
40. King RA, Summers CG: Albinism. Dermatol Clin 1988, 6: 217-228
41. Tomita Y: Tyrosinasc gene mutations causing oculocutaneous albinisms J Invest Dermatol 1993, 100: 186s-190s
42. Creel DJ, Summers CG, King RA: Visual anomalies associated with albinism. Ophthalmic Paediatr Genet 1990, 11: 193-200
43. Oetting WS, King RA: Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene Hum Mutat 1993, 2: 1-6
44. Tomita Y, Takeda A, Okinaga S, Tagami H, Shibahara S: Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. Biochem Biophys Res Commun 1989, 164: 990-996
45. Haynes ME, Robertson E: Can oculocutaneous albinism be diagnosed prenatally? Prenat Diagn 1981, 1: 85-89
46. Eady RAJ, Gunner DB, Garner A, Rodeck CH: Prenatal diagnosis of oculocutaneous albinism by electron microscopy of fetal skin. J Invest Dermatol 1983, 80: 210-212
47. Eady RAJ: Prenatal diagnosis of oculocutaneous albinism: implications for other hereditary disorders of pigmentation. Sem Dermatol 1984, 3: 241-246
48. Holbrook KA: The biology of human fetal skin at ages related to prenatal diagnosis. Pediatr Dermatol 1983, 1 97-111
49. Shimizu H, Ishiko A, Kikuchi A, Akiyama M, Suzumori K, Nishikawa T: Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism. Lancet 1992, 340: 739-740
50. Mishima Y: Electron microscopic cytochemistry of melanosomes and mitochondria. J Histochem Cytochem 1964, 12: 784-790
51. Shimizu H, Ishiko A, Kikuchi A, Akiyama M, Suzumori K, Nishikawa T: Prenatal diagnosis of tyrosinase negative oculocutaneous albinism by an electron microscopic dopa reaction test of fetal skin. Prenat Diagn 1994, 14: 442-450
52. Akeo K, Shirai S, Okisaka S, Shimizu H, Miyata H, Kikuchi A, Nishikawa T, Suzumori K, Fujiwara T, Majima A: Histologic findings of fetal eyes with prenatally diagnosed oculocutaneous albinism. Arch Ophthalmol (in press)
53. Takeda A, Tomita Y, Matsunaga J, Tagami H, Shibahara S: Molecular basis of tyrosinase-negative oculocutaneous albinism. A single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59. J Biol Chem 1990, 265: 17792-17797
54. Elias S, Esterly NB: Prenatal diagnosis of hereditary skin disorders. Clin Obstet Gynecol 1981, 24: 1069-1087
55. Shimizu H, Niizeki H, Suzumori K, Aozaki R, Kawaguchi R, Hikiji K, Nishikawa T: Prenatal diagnosis of oculocutaneous albinism by analysis of the fetal tyrosinase gene. J Invest Dermatol 1994, 103: 104-106