E210K mutation in the gene encoding the β3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa

British Journal of Dermatology

Volumn 139, Issue 2, 1998, Pages 325-331

  Mellerio, J E ^a   Eady, R A J ^a   Atherton, D J ^b   Lake, B D ^b   Mcgrath, J A ^a  

^a ST THOMAS HOSPITAL   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

KALININ;

ADULT; ALOPECIA; ARTICLE; CASE REPORT; CHILD; EPIDERMOLYSIS BULLOSA; GENE MUTATION; GENETIC CODE; HEMIDESMOSOME; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PREDICTION; PRIORITY JOURNAL;

ADULT; CELL ADHESION MOLECULES; CHILD, PRESCHOOL; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; HUMANS; MALE; MUTATION; PHENOTYPE;

EID: 0031844816     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.1998.02377.x     Document Type: Article

References (36)

1. Eady RAJ. Classification of epidermolysis bullosa. In: Epidermolysis Bullosa: A Comprehensive Review of Classification. Managament and Laboratory Studies (Priestley GC, Tidman MJ, Weiss JB, Eady RAJ, eds). Crowthorne, Berkshire: Dystrophic Epidermolysis Bullosa Research Association (DEBRA). 1990: 1-9.
2. Fine J-D, Bauer EA, Briggaman RA et al. Revised clinical and laboratory criteria for subtypes of inherited epidormolysis bullosa: a consensus report by the subcommittee on diagnosis and classification of the National Epidermolysis Bullosa Registry. J Am Acad Dermatol 1991; 24: 119-35.
3. Christiano AM, Uitto J. Molecular complexity of the cutaneous basement membrane zone: revelations from paradigms of epidermolysis bullosa. Exp Dermatol 1996; 5: 1-11.
4. Pulkkinen L, Kimonis VE, Xu Y et al. Homozygous α6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia. Hum Mol Genet 1997; 6: 669-74.
5. Pulkkinen L, Christiano AM, Gerecke D et al. A homozygous nonsense mutation in the β3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics 1994; 24: 357-60.
6. Pulkkinen L, McGrath JA, Christiano AM, Uitto J. Detection of sequence variants in the gene- encoding the β3 chain of laminin 5 (LAMB3). Hum Mutat 1995; 6: 77-84.
7. Vailly J, Pulkkinen L, Miquel C et al. 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: 462-6.
8. 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.
9. McGrath JA, Kivirikko S, Ciatti S et al. 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 1996; 106: 781-4.
10. McGath JA, Pulkkinen L, Christiano AM et al. Altered laminin 5 expression due to mutations in the gene encoding the β3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1995; 104: 467-74.
11. McGath JA, Christiano AM, Pulkkinen L et al. Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa. J Invest Dermatol 1996; 106: 775-7.
12. McGrath JA, Gatalica B, Christiano AM et al. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a transmembrane hemidesmosomal collagen (COL17A1), in generalised atrophic benign epidermolysis bullosa. Nature Genet 1995; 11: 83-6.
13. McGrath JA, Darling T, Gatalica B et al. A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1996; 106: 771-4.
14. McGrath JA, Gatalica B, Li K et al. Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition. Am J Pathol 1996; 148: 1787-46.
15. Chavanas S, Gache Y, Tadini GL et al. A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1997; 109: 74-8.
16. Darling T, McGrath JA, Yee C et al. Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/ type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1997; 108: 463-8.
17. Gatalica B, Pulkkinen L, Li K et al. Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa. Am J Hum Genet 1997; 60: 352-65.
18. Hintner H, Wolff K. Generalized atrophic benign epidermolysis bullosa. Arch Dermatol 1982; 118: 375-84.
19. Paller AS, Fine JD, Kaplan S, Pearson W. The generalised atrophic benign form of junctional epidermolysis bullosa. Arch Dermatol 1986; 122: 704-10.
20. Foldes C, Wallach D, Aubiniere E et al. Generalized atrophic benign form of epidermolysis bullosa. Dermatologica 1988; 176: 83-90.
21. Grubauer G, Hintner H, Klein G, Fritsch P. Acquired, surface giant naevus cell naevi in generalized atrophic benign epidermolysis bullosa. Hautartz 1989; 40: 523-6.
22. Jonkman MF, de Jong MCJM, Heeres K et al Generalized atrophic benign epidermolysis bullosa. Either 180-kD bullous pemphigoid antigen or laminin 5 deficiency? Arch Dermatol 1996; 132: 145-50.
23. Schofield OMV, Eady RAJ. Generalised atrophic benign epidermolysis bullosa. In: Epidermolysis Bullosa: A Comprehensive Review of Classification, Management and Laboratory Studies (Priestley GC, Tidman MJ, Weiss JB, Eady RAJ, eds). Crowthorne, Berkshire: Dystrophic Epidermolysis Bullosa Research Association (DEBRA), 1990: 97-102.
24. Eady RAJ. Transmission electron microscopy. In: Methods in Skin Research (Skerrow D, Skerrow CJ, eds). Chichester: John Wiley and Sons, 1985: 1-35.
25. Kennedy AR, Heagerty AHM, Ortonne J-P et al. Abnormal binding of an anti-amnion antibody to epidermal basement membrane provides a novel diagnostic probe for junctional epidermolysis bullosa. Br J Dermatol 1985; 113: 651-9.
26. Verrando P, Blanchet-Bardon C, Pisani A et al. Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa. Lab Invest 1991; 64: 85-92.
27. Nishizawa Y, Uematsu J, Owaribe K. HD4, a 180-kD bullous pemphigoid antigen, is a major transmembrane glycoprotein of the hemidesmosome. J Biochem (Tokyo) 1993; 113: 493-501.
28. McGrath JA, Eady RAJ. The role of immunohistochemistry in the diagnosis of the non-lethal forms of junctional epidermolysis bullosa. J Dermatol Sci 1997; 14: 68-75.
29. Sambrook J, Fritsch EF, Maniatis T. Molecular Cloning. A Laboratory Manual. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press, 1989.
30. Ganguly A, Rock MJ, Prockop DJ. 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 1993; 90: 10325-9.
31. Urlaub G, Mitchell PJ, Ciudad CJ, Chasin LA. Nonsense mutations in the dihydrofolate reductase gene affect RNA processing. Mol Cell Biol 1989; 9: 2868-80.
32. Cheng J, Fogel-Petrovic M, Maquat LE. Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA. Mol Cell Biol 1990; 10: 5215-25.
33. Cooper DN. Human gene mutations affecting RNA processing and translation. Ann Med 1993; 25: 11-17.
34. Marinkovich MP, Lunstrum GP, Burgeson RE. The anchoring filament protein kalinin is synthesized and secreted as a high molecular weight precursor. J Biol Chem 1992; 267: 17900-6.
35. Champliaud M-F, Lunstrum GP, Rouselle P et al. Human amnion contains a novel laminin variant, laminin 7, which like laminin 6, covalently associates with laminin 5 to promote stable epithelial-stromal attachment. J Cell Biol 1996; 132: 1189-98.
36. Pulkkinen L, Jonkman MF, McGrath JA et al. LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: consequences at the mRNA and protein levels.. Lab Invest (in press).