Herlitz junctional epidermolysis bullosa: Diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands

British Journal of Dermatology

Volumn 165, Issue 6, 2011, Pages 1314-1322

  Yuen, W Y ^a   Lemmink, H H ^a   Van Dijk Bos, K K ^a   Sinke, R J ^a   Jonkman, M F ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

KALININ;

ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; EPIDERMOLYSIS BULLOSA; EXON; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEMIDESMOSOME; HERLITZ JUNCTIONAL EPIDERMOLYSIS BULLOSA; HETEROZYGOTE; HUMAN; INCIDENCE; INFANT; LAMA 3 GENE; LAMB 3 GENE; LAMC 2 GENE; LIFESPAN; MALE; NETHERLANDS; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL;

CELL ADHESION MOLECULES; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; GENOTYPE; HETEROZYGOTE; HUMANS; INCIDENCE; INFANT; LAMININ; MALE; MICROSCOPY, ELECTRON; MUTATION; NETHERLANDS; PHENOTYPE;

EID: 82255175240     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2011.10553.x     Document Type: Article

References (41)

1. Fine JD, Eady RAJ, Bauer EA, et al. The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 2008; 58: 931-50.
2. Laimer M, Lanschuetzer CM, Diem A, et al. Herlitz junctional epidermolysis bullosa. Dermatol Clin 2010; 28: 55-60.
3. Aberdam D, Galliano MF, Vailly J, et al. 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. (Pubitemid 24188629)
4. Kivirikko S, McGrath JA, Baudoin C, et al. A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. Hum Mol Genet 1995; 4: 959-62.
5. Pulkkinen L, Christiano AM, Gerecke D, et al. A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics 1994; 24: 357-60.
6. Schneider H, Muhle C, Pacho F,. Biological function of laminin-5 and pathogenic impact of its deficiency. Eur J Cell Biol 2007; 86: 701-17. (Pubitemid 350082193)
7. Castori M, Floriddia G, De Luca N, et al. Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population. Br J Dermatol 2008; 158: 38-44. (Pubitemid 350221888)
8. Castori M, Floriddia G, Pisaneschi E, et al. Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa. J Dermatol Sci 2008; 51: 58-61.
9. Mühle C, Jiang QJ, Charlesworth A, et al. Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease. Hum Genet 2005; 116: 33-42. (Pubitemid 40057914)
10. Posteraro P, De Luca N, Meneguzzi G, et al. Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa. J Invest Dermatol 2004; 123: 639-48. (Pubitemid 39281603)
11. Pohla-Gubo G, Cepeda-Valdes R, Hintner H,. Immunofluorescence mapping for the diagnosis of epidermolysis bullosa. Dermatol Clin 2010; 28: 201-10, vii.
12. Schofield OM, Fine JD, Verrando P, et al. GB3 monoclonal antibody for the diagnosis of junctional epidermolysis bullosa: results of a multicenter study. J Am Acad Dermatol 1990; 23: 1078-83.
13. Hamill KJ, McLean WH,. The alpha-3 polypeptide chain of laminin 5: insight into wound healing responses from the study of genodermatoses. Clin Exp Dermatol 2005; 30: 398-404. (Pubitemid 40835341)
14. Ryan MC, Lee K, Miyashita Y, et al. Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells. J Cell Biol 1999; 145: 1309-23. (Pubitemid 29293640)
15. Ryan MC, Tizard R, VanDevanter DR, et al. Cloning of the LamA3 gene encoding the alpha 3 chain of the adhesive ligand epiligrin. Expression in wound repair. J Biol Chem 1994; 269: 22779-87.
16. Fine JD, Mellerio JE,. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part II. Other organs. J Am Acad Dermatol 2009; 61: 387-402.
17. Fine JD, Mellerio JE,. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues. J Am Acad Dermatol 2009; 61: 367-84.
18. Yan EG, Paris JJ, Ahluwalia J, et al. Treatment decision-making for patients with the Herlitz subtype of junctional epidermolysis bullosa. J Perinatol 2007; 27: 307-11. (Pubitemid 46647909)
19. Fine J, Hintner H,. Life with Epidermolysis Bullosa (EB): Etiology, Diagnosis, Multidisciplinary Care and Therapy. Vienna: Springer-Verlag, 2009.
20. Nakano A, Pfendner E, Hashimoto I, et al. Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency. J Invest Dermatol 2000; 115: 493-8.
21. Jonkman MF, de Jong MC, Heeres K, et al. 180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa. J Clin Invest 1995; 95: 1345-52.
22. Pasmooij AM, Pas HH, Bolling MC, et al. Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. J Clin Invest 2007; 117: 1240-8. (Pubitemid 46718412)
23. Jonkman MF, de Jong MC, Heeres K, et al. Expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa. J Invest Dermatol 1992; 99: 489-96.
24. Bauer J, Schumann H, Sonnichsen K, et al. Molecular diagnostics facilitate distinction between lethal and non-lethal subtypes of junctional epidermolysis bullosa: a case report and review of the literature. Eur J Pediatr 2002; 161: 672-9. (Pubitemid 35435541)
25. McMillan JR, McGrath JA, Pulkkinen L, et al. Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation. Br J Dermatol 1997; 136: 817-22. (Pubitemid 27283509)
26. Eady RA, Dopping-Hepenstal PJ,. Transmission electron microscopy for the diagnosis of epidermolysis bullosa. Dermatol Clin 2010; 28: 211-22, vii.
27. Smith LT,. Ultrastructural findings in epidermolysis bullosa. Arch Dermatol 1993; 129: 1578-84. (Pubitemid 23357909)
28. Gache Y, Allegra M, Bodemer C, et al. Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging. Hum Mol Genet 2001; 10: 2453-61. (Pubitemid 33069551)
29. McGrath JA, Ashton GH, Mellerio JE, et al. Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations. J Invest Dermatol 1999; 113: 314-21. (Pubitemid 29449067)
30. Carothers AM, Urlaub G, Grunberger D, et al. Splicing mutants and their second-site suppressors at the dihydrofolate reductase locus in Chinese hamster ovary cells. Mol Cell Biol 1993; 13: 5085-98.
31. Talerico M, Berget SM,. Effect of 5′ splice site mutations on splicing of the preceding intron. Mol Cell Biol 1990; 10: 6299-305. (Pubitemid 120004572)
32. Nakano A, Chao SC, Pulkkinen L, et al. Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. Hum Genet 2002; 110: 41-51. (Pubitemid 36067416)
33. Kivirikko S, McGrath JA, Pulkkinen L, et al. Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. Hum Mol Genet 1996; 5: 231-7. (Pubitemid 26036919)
34. McGrath JA, McMillan JR, Dunnill MG, et al. Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: implications for prenatal diagnosis in one family. Prenat Diagn 1995; 15: 647-54.
35. Varki R, Sadowski S, Pfendner E, et al. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J Med Genet 2006; 43: 641-52. (Pubitemid 44214901)
36. Ashton GH, Mellerio JE, Dunnill MG, et al. A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele. Br J Dermatol 1997; 136: 674-7. (Pubitemid 27278072)
37. Takizawa Y, Shimizu H, Pulkkinen L, et al. Novel premature termination codon mutations in the laminin gamma2-chain gene (LAMC2) in Herlitz junctional epidermolysis bullosa. J Invest Dermatol 1998; 111: 1233-4. (Pubitemid 29115207)
38. Fassihi H, McGrath JA,. Prenatal diagnosis of epidermolysis bullosa. Dermatol Clin 2010; 28: 231-7.
39. 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. (Pubitemid 30458513)
40. Fassihi H, Liu L, Renwick PJ, et al. Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa. Br J Dermatol 2010; 162: 1330-6.
41. Sybert VP,. Genetic counseling in epidermolysis bullosa. Dermatol Clin 2010; 28: 239-43, viii.