Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with herlitz junctional epidermolysis bullosa has implications for mutation detection strategy

Journal of Investigative Dermatology

Volumn 109, Issue 2, 1997, Pages 232-237

  Pulkkinen, Leena ^a,d   Meneguzzi, Guerrino ^b   McGrath, John A ^a   Xu, Yili ^a   Blanchet Bardon, Claudine ^c   Ortonne, Jean Paul ^b   Christiane, Angela M ^a   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b UNIVERSITÉ CÔTE D'AZUR   (France)

^c SAINT LOUIS HOSPITAL   (France)

^d KUOPIO UNIVERSITY HOSPITAL   (Finland)

Author keywords

Basement membrane zone; Laminin 5 mutations

Indexed keywords

DNA; KALININ; NUCLEOTIDE; POLYPEPTIDE; RESTRICTION ENDONUCLEASE;

ALLELE; ARTICLE; EPIDERMOLYSIS BULLOSA; EXON; GENE; GENE MUTATION; HUMAN; IMMUNOFLUORESCENCE; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECURRENT DISEASE; TRANSMISSION ELECTRON MICROSCOPY;

EID: 0030742445     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12319752     Document Type: Article

References (34)

1. 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, Yurchenco PD: A new nomenclature for laminins. Matrix Biol 14:209-211, 1994
2. Christiano AM, Pulkkinen L, McGrath JA, Uitto J: Mutation based prenatal diagnosis of Herlitz junctional epidermolysis bullosa. Prenat Diagn 17:343-354, 1997
3. Christiano AM, Uitto J: Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa. Exp Dermol 5:1-11, 1996
4. Cooper DN, Youssoufian H: The CpG dinucleotide and human disease. Hum Genet 78:151-155, 1988
5. Corden LD, McLean WHI: Human keratin diseases: hereditary fragility of specific epithelial tissues. Exp Dermatol 5:297-307, 1996
6. Cui Y, Hagan KW, Zhang S, Peltz SW: Identification and characterization of genes that are required for the accelerated degradation of mRNAs containing a premature translational termination codon. Genes Dev 9:423-436, 1995
7. Dietz HC, Pyeritz RE, Puffenberger EG, Kendzior RJ Jr, Corson GM, Maslen CL, Sakai LY, Francomano CA, Cutting GR: Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of fibrillin gene. J Clin Invest 89:1674-1680, 1992
8. Fine J-D, Bauer EA, Briggaman RA, Carter DM, Eady RAJ, Esterly NB, Holbrook KA, Hurwitz S, Johnson L, Lin A, Pearson R, Sybert VP: 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 24:119-135, 1991
9. Gache Y, Chavanas S, Lacour JP, Wiche G, Owaribe K, Meneguzzi G, Ortonne JP: Defective expression of plectin in epidermolysis bullosa simplex with muscular dystrophy. J. Clin Invest 97:2289-2292, 1996
10. 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 90:10325-10329, 1993
11. Gerecke DR, Wagman DW, Champliaud MF, Burgeson RE: The complete primary structure for a novel laminin chain, the laminin B1k chain. J Biol Chem 269:11073-11080, 1994
12. Hovnanian A, Hilal L, Blanchet-Bardon C, de Prost Y, Christiano AM, Uitto J, Goossens M: Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa. Am J Hum Genet 55:289-296, 1994
13. Kivirikko S, McGrath JA, Baudoin C, Aberdam D, Ciatti S, Dunnill MGS, McMillan JR, Eady RAJ, Ortonne J-P, Meneguzzi G, Uitto J, Christiano AM: A homozygous nonsense mutation in the α3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. Hum Mol Genet 4:959-962, 1995
14. Kivirikko S, McGrath JA, Pulkkinen L, Uitto J, Christiano AM: Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. Hum Mol Genet 5:231-237, 1996
15. Marinkovich P, Taylor B, Keene R, Burgeson RE, Zone J: Lad-1, the linear IgA bullous dermatosis autoantigen, is a novel 120-kDa anchoring filament protein synthesized by epidermal cells. J Invest Dermatol 106:734-738, 1996
16. Pattison JK, Miller DS, Grundy CB, Wieland K, Mibashan RS, Martinowitz U, Tan-Un K, Vidaud M, Goossens M: The molecular genetic analysis of haemophilia A: a directed-search strategy for the detection of point mutations in the human factor VIII gene. Blood 76:2242-2248, 1990
17. Pulkkinen L, Christiano AM, Gerecke DR, Wagman DW, Burgeson RE, Pittelkow MR, Uitto J: A homozygous nonsense mutation in the β3 chain of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics 24:357-360, 1994
18. Pulkkinen L, Gerecke DR, Christiano AM, Wagman DW, Burgeson RE, Uitto J: Cloning of the β3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa. Genomics 25:192-198, 1995a
19. Pulkkinen L, Kimonis VE, Xu Y, Spanou EN, McLean WHI, Uitto J: Homozygous α6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia. Hum Molec Genet 6:669-674, 1997a
20. Pulkkinen L, Kurtz K, Xu Y, Bruckner-Tuderman L, Uitto J: The β4 integrin gene and epidermolysis bullosa with pyloric atresia: a homozygous splice-site mutation results in aberrant mRNA transcripts with premature termination codons. Lab Invest, 1997b, in press
21. Pulkkinen L, McGrath J, Airenne T, Haakana H, Tryggvason K, Kivirikko S, Meneguzzi G, Ortonne J-P, Christiano AM, Uitto J: Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis bullosa. Mol Med 3:124-135, 1997c
22. Pulkkinen L, McGrath JA, Christiano AM, Uitto J: 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, 1995b
23. Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning. A Laboratory Manual. Cold Spring Harbor Laboratory Press. Cold Spring Harbor, NY, 1989
24. Shimizu H, Takizawa Y, McGrath JA, Pulkkinen L, Christiano AM, Uitto J, Burgeson RE, Iwatsuki K, Niimi N, Noguchi M, Imayama S, Abe Y, Shirakata Y, Hagiwara S, Saida T, Ogawa H, Hashimoto I, Nishikawa T: Absence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa. Arch Dermatol Res 289:174-176, 1997
25. Takizawa Y, Shimizu H, Hatta N, Nishikawa T, Pulkkinen L, Uitto J: Novel ITGB4 mutations in a patient with junctional epidermolysis bullosa-pyloric atresia syndrome and altered basement membrane zone immunofluorescence for the α6β4 integrin. J Invest Dermatol 108:943-946, 1997
26. Tidman M, Eady RAJ: Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis. J Invest Dermatol 86:51-56, 1986
27. Uitto J, Christiano AM: Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases. J Clin Invest 90:687-692, 1992
28. Uitto J, McGrath JA, Pulkkinen L, Christiano AM: Proceedings of the 7th International Symposium on Basement Membranes. National Institutes of Health, Bethesda, Maryland, June 29 and 30, 1995, pp. 257-269, 1995
29. Uitto J, Pulkkinen L: Molecular complexity of the cutaneous basement membrane zone. Mol Biol Rep 23:35-46, 1996
30. 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 103:39S-46S, 1994
31. Uitto J, Pulkkinen L, Smith FJD, McLean WHI: Plectin and human genetic disorders of the skin and muscle: The paradigm of epidermolysis bullosa with muscular dystrophy. Exp Dermatol 5:237-246, 1996
32. Urlaub G, Mitchell PJ, Ciudad CJ, Chasin LA: Nonsense mutations in the dihydrofolate reductase gene affect RNA processing. Mol Cell Biol 9:2868-2880, 1989
33. Verrando P, Blanchet-Bardon C, Pisani A, Thomas L, Cambazard F, Eady RAJ, Schofield OMV, Ortonne J-P: Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa. Lab Invest 64:85-92, 1991
34. Vidal F, Aberdam D, Christiano AM, Pulkkinen L, Uitto J, Ortonne J-P, Meneguzzi G: Mutations in the gene for the integrin β4 subunit are associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet 10:229-234, 1995