Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: Missense versus nonsense

American Journal of Human Genetics

Volumn 63, Issue 5, 1998, Pages 1376-1387

  Pulkkinen, Leena ^a,g   Rouan, Fatima ^a   Bruckner Tuderman, Leena ^b   Wallerstein, Robert ^c   Garzon, Maria ^d   Brown, Tod ^e   Smith, Lynne ^f   Carter, William ^e   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b UNIVERSITY OF MÜNSTER   (Germany)

^c NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^d Columbia Univ Coll Phys Surgs ^*  (United States)

^e UNIVERSITY OF WASHINGTON   (United States)

^f UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^g KUOPIO UNIVERSITY HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; INTEGRIN;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; ATRESIA; AUTOSOMAL RECESSIVE INHERITANCE; BLISTER; CLINICAL ARTICLE; CLINICAL FEATURE; EPIDERMOLYSIS BULLOSA; FEMALE; HUMAN; HUMAN TISSUE; INFANT; MALE; MISSENSE MUTATION; NEWBORN; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PYLORUS; SCHOOL CHILD; SEQUENCE ANALYSIS;

EID: 0032231297     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302116     Document Type: Article

References (33)

1. Aho S, Uitto J (1998) Direct interaction between the intracellular domains of bullous pemphigoid antigen 2 (BP180) and β4 integrin, hemidesmosomal components of basal keratinocytes. Biochem Biophys Res Commun 243:694-699
2. Bhalerao J, Barnes R, Massa H, Trask B, Leach R, Bowcock A (1997) A radiation hybrid and physical map of human chromosome 17q25. Am J Hum Genet Suppl 61:A232
3. Borradori L, Koch PJ, Niessen CM, Erkeland S, van Leusden MR, Sonnenberg A (1997) The localization of bullous pemphigoid antigen 180 (BP180) in hemidesmosomes is mediated by its cytoplasmic domain and seems to be regulated by the β4 integrin subunit. J Cell Biol 136:1333-1347
4. Brown TA, Gil SG, Sybert VP, Lestringant GG, Tadini G, Caputo R, Carter WG (1996) Defective integrin α6β4 expression in the skin of patients with junctional epidermolysis bullosa and pyloric atresia. J Invest Dermatol 107:384-391
5. Christiano AM, LaForgia S, Paller AS, McGuire J, Shimizu H, Ditto J (1996) Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in ten families by mutation and haplotype analysis in the type VII collagen gene (COL7A1). Mol Med 2:59-76
6. Christiano AM, Pulkkinen L, McGrath JA, Uitto J (1997) Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa. Prenat Diagn 17:343-354
7. Cui Y, Hagan KW, Zhang S, Peltz SW (1995) 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
8. Dowling J, Yu Q-C, Fuchs E (1996) β4 integrin is required for hemidesmosome formation, cell adhesion, and cell survival. J Cell Biol 134:559-572
9. Fine J-D, Bauer EA, Briggaman RA, Carter DM, Eady RAJ, Esterly NB, Holbrook KA, et al (1991) 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 24:119-135
10. 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
11. Georges-Labouesse E, Messaddeq N, Yehia G, Cadabert L, Dierich A, Le Meur M (1996) Absence of integrin α6 leads to epidermolysis bullosa and neonatal death in mice. Nat Genet 13:370-373
12. Gil SG, Brown TA, Ryan MC, Carter WG (1994) Junctional epidermolysis bullosa: defects in the expression of epiligrin/nicein/kalinin and integrin beta 4 that inhibit hemidesmosome formation. J Invest Dermatol Suppl 103:31S-38S
13. Lestringant GG, Akel SR, Qayed KI (1992) The pyloric atresia-junctional epidermolysis bullosa syndrome: report of a case and review of the literature. Arch Dermatol 128:1083-1086
14. Nazzaro V, Nicolini U, De LL, Berti E, Caputo R (1990) Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia. J Med Genet 27:244-248
15. Niessen CM, Hulsman EHM, Oomen LCJM, Kuikman I, Sonnenberg A (1997) A minimal region on the integrin β4 subunit that is critical to its localization in hemidesmosomes regulates the distribution of HD1/plectin in COS-7 cells. J Cell Sci 110:1705-1716
16. Niessen CM, van der Raaij-Helmer LMH, Hulsman EHM, van der Neut R, Jonkman MF, Sonnenberg A (1996) Deficiency of the integrin β4 subunit in junctional epidermolysis bullosa with pyloric atresia: consequences for hemidesmosome formation and adhesion properties. J Cell Sci 109:1695-1706
17. Pulkkinen L, Bruckner-Tuderman L, August C, Uitto J (1998a) Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the β4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia. Am J Pathol 152:935-941
18. Pulkkinen L, Kim D-U, Uitto J (1998b) Epidermolysis bullosa with pyloric atresia: novel mutations in the β4 integrin gene (ITGB4). Am J Pathol 152:157-166
19. Pulkkinen L, Kimonis VE, Xu Y, Spanou EN, McLean WHI, Uitto J (1997a) Homozygous α6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia. Hum Mol Genet 6:669-674
20. Pulkkinen L, Kurtz K, Xu Y, Bruckner-Tuderman L, Uitto J (1997b) Genomic organization of the β4 integrin gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia. Lab Invest 76:823-833
21. Pulkkinen L, Uitto J (1998) Hemidesmosomal variants of epidermolysis bullosa: mutations in the α6β4 integrin and the 180-kD bullous pemphigoid antigen/type XVII collagen genes. Exp Dermatol 7:46-64
22. Ruzzi L, Gagnoux-Palacios L, Pinola M, Belli S, Meneguzzi G, D'Alessio M, Zambruno G (1997) A homozygous mutation in the integrin α6 gene in junctional epidermolysis bullosa with pyloric atresia. J Clin Invest 99:2826-2831
23. Sánchez-Aparicio P, Martínez de Velasco AM, Niessen CM, Borradori L, Kuikman I, Hulsman EHM, Fässler R, et al (1997) The subcellular distribution of the high molecular mass protein, HD1, is determined by the cytoplasmic domain of the integrin β4 subunit. J Cell Sci 110:169-178
24. Shimizu H, Suzumori K, Hatta N, Nishikawa T (1996) Absence of detectable α6 integrin in pyloric atresia-junctional epidermolysis bullosa syndrome. Arch Dermatol 132:919-925
25. Sonnenberg A, Calafat J, Janssen H, Daams H, van der Raaij-Helmer LM, Falcioni R, Kennel SJ, et al (1991) Integrin alpha 6/beta 4 complex is located in hemidesmosomes, suggesting a major role in epidermal cell-basement membrane, adhesion. J Cell Biol 113:907-917
26. Spinardi L, Einheber S, Cullen T, Milner TA, Giancotti FG (1995) A recombinant tail-less integrin β4 subunit disrupts hemidesmosomes, but does not suppress α6β4-mediated cell adhesion to laminins. J Cell Biol 129:473-487
27. Stepp MA, Spurr-Michaud S, Tisdale A, Elwell J, Gipson IK (1990) α6β4 integrin heterodimer is a component of hemidesmosomes. Proc Natl Acad Sci USA 87:8970-8974
28. Takizawa Y, Shimizu H, Nishikawa T, Hatta N, Pulkkinen L, Uitto J (1997) 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
29. Thorsteinsdóttir S, Roelen BAF, Freund E, Gaspar AC, Sonnenberg A, Mummery CL (1995) Expression patterns of laminin receptor splice variants α6β1 and α6β1 suggest different roles in mouse development. Dev Dyn 204:240-258
30. Uitto J, Pulkkinen L, McLean WHI (1997) Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity. Mol Med Today 3:457-465
31. van der Neut R, Krimpenfort P, Calafat J, Niessen CM, Sonnenberg A (1996) Epithelial detachment due to absence of hemidesmosomes in integrin β4 null allele. Nat Genet 13:366-369
32. van Leusden MR, Kuikman I, Sonnenberg A (1997) The unique cytoplasmic domain of the human integrin variant β4E is produced by partial retention of intronic sequences. Biochem Biophys Res Commun 235:826-830
33. Vidal F, Aberdam D, Miquel C, Christiano AM, Pulkkinen L, Uitto J, Ortonne J-P, et al (1995) Mutations in the gene for the integrin β4 suhunit are associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet 10:229-234