Prenatal diagnosis for epidermolysis bullosa: A study of 144 consecutive pregnancies at risk

Prenatal Diagnosis

Volumn 23, Issue 6, 2003, Pages 447-456

  Pfendner, Ellen G ^a   Nakanol, Aoi ^a,c   Pulkkinen, Leena ^a   Christiano, Angela M ^b   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b Och Spine at New York Presbyterian Hospitals   (United States)

^c HIROSAKI UNIVERSITY   (Japan)

Author keywords

Blistering skin diseases; Epidermolysis bullosa; Genodermatoses; Prenatal diagnosis

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLISTER; CHORION VILLUS SAMPLING; EPIDERMOLYSIS BULLOSA; FEMALE; GEL ELECTROPHORESIS; GENE MUTATION; GENODERMATOSIS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HIGH RISK PREGNANCY; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIGENE FAMILY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SKIN DISEASE; STRUCTURAL GENE;

ADULT; AMNIOCENTESIS; CHORIONIC VILLI SAMPLING; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; ELECTROPHORESIS, GEL, TWO-DIMENSIONAL; EPIDERMOLYSIS BULLOSA; FEMALE; HUMANS; INHERITANCE PATTERNS; LINKAGE (GENETICS); POLYMERASE CHAIN REACTION; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PREGNANCY TRIMESTER, SECOND; PRENATAL DIAGNOSIS; SKIN;

EID: 0038799919     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.619     Document Type: Article

References (86)

1. Amaya-Guerra M, McGrath JA, Kligberg S. 2000. Prenatal diagnosis of dominant dystrophic epidermolysis bullosa, by COL7A1 molecular analysis. Int J Dermatol 39: 436-442.
2. Anton-Lamprecht I, Arnold ML, Holbrook KA. 1984. Methodology in sampling of fetal skin and pitfalls in the interpretation of fetal skin biopsy specimens. Semin Dermatol 3: 303-315.
3. Batta K, Rugg EL, Wilson NJ, et al. 2000. A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease. Br J Dermatol 143: 621-627.
4. Bonifas JM, Rothman AL, Epstein EH. 1991. Epidermolysis bullosa: evidence in two families for keratin gene abnormalities. Science 254: 1202-1205.
5. Chan Y, Anton-Lamprecht I, Yu QC, et al. 1994, A human keratin 14 knockout: the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein. Genes Dev 8: 2574-2587.
6. Chavanas S, Pulkkinen L, Gache Y, et al. 1996. A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy. J Clin Invest 98: 2196-2200.
7. Chong SS, Kristjansson K, Cota J, Handyside AH, Hughes MR. 1993. Preimplantation prevention of X-linked disease: reliable and rapid sex determination of single human cells by restriction analysis of simultaneously amplified ZFX and ZFY sequences. Hum Mol Genet 2: 1187-1191.
8. Christiano AM, Uitto J. 1993. Prenatal and preimplantation diagnosis of genetic skin disorders. Arch Dermatol 129: 1455-1459.
9. Christiano AM, McGrath JA, Tan KC, Uitto J. 1996a. Glycine substitutions in the triple helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance. Am J Hum Genet 58: 671-681.
10. Christiano AM, McGrath JA, Uitto J. 1996b. Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa. J Invest Dermatol 106: 766-770.
11. Christiano AM, LaForgia S, Paller AS, McGuire J, Shimizu H, Uitto J. 1996c. Prenatal diagnosis for recessive epidermolysis bullosa in ten families by mutation and haplotype analysis in the type VII collagen gene (COL7A1). Mol Med 2: 59-76.
12. Christiano AM, Hoffman GG, Zhang X, et al. 1997a. Strategy for the identification of sequence variants in COL7A1, and novel 2 bp deletion mutation in recessive dystrophic epidermolysis bullosa. Hum Mutat 10: 408-414.
13. Christiano AM, Amano S, Eichenfield LF, Burgeson RE, Uitto J. 1997b. Premature termination codon mutations in the type VII collagen gene in recessive dystrophic epidermolysis bullosa result in nonsense-mediated mRNA decay and absence of functional protein. J Invest Dermatol 109: 390-394.
14. Christiano AM, Pulkkinen L, McGrath JA, Uitto J. 1997c. Mutation based prenatal diagnosis of Herlitz junctional epidermolysis bullosa. Prenat Diagn 17: 343-354.
15. Ciubutaro D, Bergman R, Baty D, et al. 2003. Epidermolysis bullosa in Israel: clinical and genetic features. Arch Dennatol (in press).
16. Corden LD, Mellerio JE, Gratian MJ, et al. 1998. Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex. Hum Mutat 11: 279-285.
17. Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E. 1991. Point mutations in human keratin 14 genes of epidermolysis bullosa patients: genetic and functional analysis. Cell 66: 1301-1311.
18. Dang M, Pulkkinen L, Smith FJC, McLean WH, Uitto J. 1998. Novel compound heterozygous mutations in the plectin gene in epidermolysis bullosa with muscular dystrophy (EB-MD), and use of protein truncation test for detection of premature termination codon mutations. Lab Invest 78: 195-204.
19. Elias S. 1987. Use of fetoscopy for the prenatal diagnosis of hereditary skin disorders. Curr Probl Dermatol 16: 1-3.
20. Elias S, Emerson DS, Simpson JL, Shulman LP, Holbrook KA. 1994. Ultrasound-guided fetal skin sampling for prenatal diagnosis of genodermatoses. Obstet Gynecol 83: 337-341.
21. Fine J-D, Bauer EA, McGuire J, Moshell A. 1999. Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances and the Findings of the National Epidermolysis Bullosa Registry, The Johns Hopkins University Press: Baltimore, MD.
22. Fine J-D, Eady RAJ, Bauer EA, et al. 2000. Revised classification system for inherited epidermolysis bullosa: report of the second international consensus meeting on diagnosis and classification of epidermolysis bullosa. J Am Acad Dermatol 42: 1051-1066.
23. Fuchs E. 2002. Disorders of intermediate filaments and their associated proteins. In Emery and Rimoin's Principles and Practice of Medical Genetics (4th edn), Rimoin DL, Connor JM, Pyeritz RE, Korf B, Emery AEH (eds). Churchill Livingstone: London.
24. Gache Y, Chavanas S, Lacour JP, et al. 1996. Defective expression of plectin/HD1 in epidennolysis bullosa simplex with muscular dystrophy. J Clin Invest 97: 2289-2298.
25. Gache Y, Romero-Graillet C, Spadafora A, et al. 1998. A novel homozygous mutation affecting integrin α6 in a case of junctional epidermolysis bullosa with pyloric atresia detected in utero by ultrasound examination. J Invest Dermatol 111: 914-916.
26. Ganguly A, Rock MJ, Prockop DJ. 1993. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 90: 10325-10329.
27. Gardella R, Belletti L, Zoppi N, Marini D, Barlati S, Colombi M. 1996. Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa. Am J Hum Genet 59: 292-300.
28. Gatalica B, Pulkkinen L, Li K, et al. 1997. Cloning of the human type XVII collagen gene (COL17A1) and detection of novel mutations in generalized atrophic benign epidermolysis bullosa. Am J Hum Genet 60: 352-365.
29. Gold B, Bergeron J, Lachtermacher-Triunfol M, Dean M. 2001. Human duplex sex determination PCR. Biotechniques 31: 28-35.
30. Holbrook KA, Smith LT, Elias S. 1993. Prenatal diagnosis of genetic skin disease using fetal skin biopsy samples. Arch Dermatol 129: 1437-1454.
31. Hovnanian A, Hilal L, Blanchet-Bardon C, et al. 1995. DNA-based prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa in six pregnancies at risk for recurrence. J Invest Dermatol 104: 456-461.
32. Hovnanian A, Rochat A, Bodemer C, et al. 1997. Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation. Am J Hum Genet 61: 599-610.
33. Irvine AD, McLean WH. 1999. Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation. Br J Dermatol 140: 815-828.
34. Järvikallio A, Pulkkinen L, Uitto J. 1997. Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1). Hum Mutat 10: 338-347.
35. Jonkman MF, Heeres K, Pas HH, et al. 1996. Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex. J Invest Dermatol 107: 764-769.
36. Jonkman MF, Scheffer H, Stulp R, et al. 1997. Revertant mosaicism in epidermolysis bullosa casued by mitotic gene conversion. Cell 88: 543-551.
37. Kivirikko S, McGrath JA, Pulkkinen L, Uitto J, Christiano AM. 1996. Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. Hum Mol Genet 5: 231-237.
38. Klingberg S, Mortimore R, Parkes J, et al. 2000. Prenatal diagnosis of dominant dystrophic epidermolysis bullosa, by COL7A1 molecular analysis. Prenat Diagn 20: 618-622.
39. Kon A, McGrath JA, Pulkkinen L, et al. 1997a. Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. J Invest Dermatol 108: 224-228.
40. Kon A, Nomura K, Pulkkinen L, Sawamura D, Hashimoto I, Uitto J. 1997b. Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic. J Invest Dermatol 109: 684-687.
41. Körkkö J, Annunen S, Pihlajamaa T, Prockop DJ, Ala-Kokko L. 1998. Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing. Proc Natl Acad Sci USA 95: 673-681.
42. Kunz M, Rouan F, Pulkkinen L, et al. 2000. Epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene. J Invest Dennatol 114: 376-380.
43. McGrath JA, Kivirikko S, Ciatti S, et al. 1995a. A homozygous nonsense mutation in the α3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk. Genomics 29: 282-284.
44. McGrath JA, McMillan J, Dunnill MGS, et al. 1995b. Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: implications for prenatal diagnosis in one family. Prenat Diagn 15: 647-654.
45. McGrath JA, Pulkkinen L, Christiano AM, Leigh IM, Eady RA, Uitto J. 1995c. Altered laminin 5 expression due to mutations in the gene encoding the β3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 104: 467-474.
46. McGrath JA, Gatalica B, Christiano AM, et al. 1995d. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nat Genet 11: 83-86.
47. McGrath JA, Kivirikko S, Ciatti S, Moss C, Christiano AM, Uitto J. 1996a. A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect. J Invest Dermatol 106: 781-784.
48. McGrath JA, Christiano AM, Pulkkinen L, Eady RAJ, Uitto J. 1996b. Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa. J Invest Dermatol 106: 1157-1159.
49. McGrath JA, Dunnill MGS, Christiano AM, et al. 1996c. First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling. Brit J Dermatol 134: 734-739.
50. McLean WHI, Pulkkinen L, Smith FJD, et al. 1996. Loss of plectin (HD-1) causes epidermolysis bullosa simplex with muscular dystrophy: cDNA cloning and genomic organization. Genes Dev 10: 1724-1735.
51. Nakano A, Pfendner E, Hashimoto I, Uitto J. 2000. Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency. J Invest Dermatol 115: 493-498.
52. Nakano A, Pulkkinen L, Murrell D, et al. 2001. Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the β4 integrin gene (ITGB4) and genotype/phenotype correlations. Pediatr Res 49: 618-626.
53. Nakano A, Chao S-C, Pulkkinen L, et al. 2002. Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes. Hum Genet 110: 41-51.
54. Pfendner E, Uitto J, Fine J-D. 2001. Epidermolysis bullosa carrier frequencies in the US population. J Invest Dermatol 116: 483, 484.
55. Pulkkinen L, Uitto J. 1998. Hemidesmosomal variants of epidermolysis bullosa: mutations in the α6 β4 integrin and the 180-kD bullous pemphigoid antigen/type XVII collagen genes. Exp Dermatol 7: 46-64.
56. Pulkkinen L, Uitto J. 1999. Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biol 18: 29-42.
57. Pulkkinen L, Christiano AM, Gerecke D, et al. 1994a. A homozygous nonsense mutation in the β3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics 24: 357-360.
58. Pulkkinen L, Christiano AM, Airenne T, Haakana H, Tryggvason K, Uitto J. 1994b. Mutations in the γ2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. Nat Genet 6: 293-297.
59. Pulkkinen L, McGrath JA, Christiano AM, Uitto J. 1995. Detection of sequence variants in the gene encoding the β3 chain of laminin 5 (LAMB3) by heteroduplex analysis of PCR amplified segments. Hum Mutat 6: 77-84.
60. Pulkkinen L, Smith FJD, Shimizu H, et al. 1996. Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late onset muscular dystrophy. Hum Mol Genet 5: 1539-1546.
61. Pulkkinen L, McGrath JA, Airenne T, et al. 1997a. Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis bullosa. Mol Med 3: 124-135.
62. Pulkkinen L, Kimonis VE, Xu Y, Spaneou EN, McLean WH, Uitto J. 1997b. Homozygous α6 integrin mutation in junctional epidermolysis bullosa with congenital pyloric atresia. Hum Mol Genet 6: 669-674.
63. Pulkkinen L, Cserhalmi-Friedman PB, Tang M, Ryan MC, Uitto J, Christiano AM. 1998a. Molecular analysis of the human laminin α3a chain gene (LAMA3a): a strategy for mutation identification and DNA-based prenatal diagnosis in Herlitz junctional epidermolysis bullosa. Lab Invest 78: 1067-1076.
64. Pulkkinen L, Kim DU, Uitto J. 1998b. Epidermolysis bullosa with pyloric atresia: novel mutations in the β4 integrin gene (ITGB4). Am J Pathol 152: 157-166.
65. Pulkkinen L, Rouan F, Bruckner-Tuderman L, et al. 1998c. Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. Am J Hum Genet 63: 1376-1387.
66. Pulkkinen L, Marinkovich MP, Tran HT, Lin L, Herron GS, Uitto J. 1999a. Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 113: 1114-1118.
67. Pulkkinen L, Uitto J, Christiano AM. 1999. The molecular basis of the junctional forms of epidermolysis bullosa. In Epidermolysis Bullosa: Clinical, Epidemiologic and Laboratory Advances and the Findings of the National Epidermolysis Bullosa Registry, Fine JD, Bauer EA, McGuire J, Moshell A (eds). The Johns Hopkins University Press: Baltimore, MD; 300-325.
68. Rugg EL, McLean WH, Lane EB, et al. 1994. A functional knockout of human keratin 14. Genes Dev 8: 2563-2573.
69. Rugg EL, Baty D, Shemanko CS, et al. 2000. DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex. Prenat Diagn 20: 371-377.
70. Ruzzi L, Gagnoux-Palacios L, Pinola M, et al. 1997. A homozygous mutation in the integrin α6 gene in junctional epidermolysis bullosa with pyloric atresia. J Clin Invest 99: 2826-2831.
71. Ryoo YW, Kim BC, Lee KS. 2001. Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients. J Dermatol Sci 26: 125-132.
72. Sambrook J, Fritsch EF, Maniatis T. 1989. Molecular Cloning: A Laboratory Manual, Cold Spring Harbor Laboratory Press: Plainview, NY; 9.16-9.19.
73. Shimizu H, Takizawa Y, Pulkkinen L, et al. 1999. Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literature. J Am Acad Dermatol 41: 950-956.
74. Smith FJ, Eady RAJ, Leigh IM, et al. 1996. Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat Genet 13: 450-457.
75. Takizawa Y, Shimizu H, Pulkkinen L, et al. 1998a. Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing. J Invest Dermatol 110: 174-178.
76. Takizawa Y, Shimizu H, Pulkkinen L, et al. 1998b. Combination of a novel frameshift mutation (1929delCA) and a recurrent nonsense mutation (W610X) of the LAMB3 gene in a Japanese patient with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing. J Invest Dermatol 111: 1239-1241.
77. Takizawa Y, Shimizu H, Pulkkinen L, et al. 1998c. Novel premature termination codon mutations in the laminin γ2-chain gene (LAMC2) in Herlitz junctional epidermolysis bullosa. J Invest Dermatol 111: 1233, 1234.
78. Thompson MW, McInnes RR, Willard HF, Thompson E. 1991. Genetics in Medicine (5th edn), W B Saunders Co: Philadelphia.
79. Uitto J, Pulkkinen L, Smith FJD, McLean WHI. 1996. Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy. Exp Dermatol 5: 237-246.
80. Vailly J, Pulkkinen L, Miquel C, et al. 1995a. Identification of a homozygous exon-skipping mutation in the LAMC2 gene in a patient with Herlitz's junctional epidermolysis bullosa. J Invest Dermatol 104: 434-437.
81. Vailly J, Pulkkinen L, Miquel C, et al. 1995b. Identification of a homozygous one-base pair 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 104: 462-466.
82. Vidal F, Baudoin C, Miquel C, et al. 1995a. Cloning of the laminin a3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa. Genomics 30: 273-280.
83. Vidal F, Aberdam D, Miquel C, et al. 1995b. Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet 10: 229-234.
84. Whittock NV, Ashton GH, Mohammedi R, et al. 1999. Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis. J Invest Dermatol 113: 673-686.
85. Whittock N, Eady RAJ, McGrath J. 2000. Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5. Biochem Biophys Res Commun 274: 149-152.
86. Wood P, Baty DU, Lane EB, McLean WHI. 2003. Long range PCR for specific full-length amplification of the human keratin 14 gene and novel K14 mutations in epidermolysis bullosa simplex patients. J Invest Dermatol 120: 495-497.