Analysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta

International Journal of Molecular Medicine

Volumn 18, Issue 2, 2006, Pages 333-337

  Nakamura, Hiroyuki ^a   Sawamura, Daisuke ^a   Goto, Maki ^a   Nakamura, Hideki ^a   Kida, Miyuki ^a   Ariga, Tadashi ^a   Sakiyama, Yukio ^a   Tomizawa, Koki ^b   Mitsui, Hiroshi ^c   Tamaki, Kunihiko ^c   Shimizu, Hiroshi ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Ebetsu City Hospital   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

Author keywords

Blistering; Enamel hypoplasia; Mutation; Type XVII collagen

Indexed keywords

AUTOANTIGEN; COLLAGEN TYPE 17; NONFIBRILLAR COLLAGEN;

ADULT; AMELOGENESIS IMPERFECTA; ARTICLE; EPIDERMOLYSIS BULLOSA; GENETICS; GENOTYPE; HUMAN; MALE; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE;

ADULT; AMELOGENESIS IMPERFECTA; AUTOANTIGENS; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA; GENOTYPE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; NON-FIBRILLAR COLLAGENS; PEDIGREE; PHENOTYPE;

EID: 34250653523     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm.18.2.333     Document Type: Article

References (24)

1. Zillikens D and Giudice GJ: BP180/type XVII collagen: its role in acquired and inherited disorders or the dermal-epidermal junction. Arch Dermatol Res 291: 187-194, 1999.
2. Borradori L and Sonnenberg A: Structure and function of hemidesmosomes: more than simple adhesion complexes. J Invest Dermatol 112: 411-418, 1999.
3. McGrath JA, Gatalica B, Christiano AM, et al: Mutations in the 180-kD bullous pemphigoid antigen (TYPE XVII COLLAGEN), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nat Genet 11: 83-86,1995.
4. Hashimoto I, Schnyder UW and Anton-Lamprecht I: Epidermolysis bullosa hereditaria with junctional blistering in an adult. Dermatologica 152: 72-86, 1976.
5. Hintner H and Wolff K: Generalized atrophic benign epidermolysis bullosa. Arch Dermatol 118: 375-384, 1982.
6. Schumann H, Hammami-Hauasli N, Pulkkinen L, et al: Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa. Am J Hum Genet 60: 1344-1353, 1997.
7. Floeth M, Fiedorowicz J, Schacke H, et al: Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa. J Invest Dermatol 111: 528-533, 1998.
8. McGrath JA, Darlig T, Gatalica B, et al: A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (TYPE XVII COLLAGEN) in a family with generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 106: 771-774, 1996.
9. 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 148: 1787-1796, 1996
10. Darling TN, 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 generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 108: 463-468, 1997.
11. 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 60: 352-65, 1997.
12. Jonkman MF, De Jong MCJM, Heeres K, et al: Generalezed atrophic benign epidermolysis bullosa. Either 180-kd bullous pemphigoid antigen or laminin-5 deficiency. Arch Dermatol 132: 145-150, 1996.
13. Scheffer H, Stulp RP, Verlind E, et al: Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalized atrophic benign epidermolysis bullosa. Hum Genet 100: 230-235, 1997.
14. Shimizu H, Takizawa Y, Pulkkinen L, et al: The 97 kDa linear IgA bullous dermatosis antigen is not expressed in a patient with generalized atrophic benign epidermolysis bullosa with a novel homozygous G258X mutation in COL17A1. J Invest Dermatol 111: 887-892, 1998.
15. Witkop CJJ: Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol 17: 547-553, 1998.
16. Stephanopoulos G, Garefalaki ME and Lyroudia K: Genes and related proteins involved in amelogenesis imperfecta. J Dent Res 84: 1117-1126, 2005.
17. Mitsui H, Watanabe T, Komine M, et al: Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa. J Am Acad Dermatol 52: 371-373, 2005.
18. Kida M, Ariga T, Shirakawa T and Sakiyama Y: Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary. J Dent Res 81: 738-742, 2002.
19. Shimizu H, Suzumori K, Hatta N and Nishikawa T: Absence of detectable α6 integrin in pyloric atresia-junctional epidermolysis bullosa syndrome and its application for prenatal diagnosis in a family at risk for recurrence. Arch Dermatol 132: 919-925, 1996.
20. Bauer JW and Lanschuetzer C: Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy. Clin Exp Dermatol 28: 53-60, 2003.
21. Aberdam D, Aguzzi A, Baudoin C, Galliano MF, Ortonne JP and Meneguzzi G: Developmental expression of nicein adhesion protein (laminin-5) subunits suggests multiple morphogenetic roles. Cell Adhes Commun 2: 115-129, 1994.
22. Thesleff I: Differentiation of ameloblasts and its regulation by epithelial-mesenchymal interactions. In: Dental Enamel: Formation to Destruction. Robinson C, Kirkham J and Shore RC (eds). CRC Press, Boca Raton, pp1-22, 1995.
23. Skobe Z, Stern DN and Prostak KS: The cell biology of amelogenesis. In: Dental Enamel: Formation to Destruction. Robinson C, Kirkham J and Shore RC (eds). CRC Press, Boca Raton, pp23-57, 1995.
24. Hu JC and Yamakoshi Y: Enamelin and autosomal-dominant amelogenesis imperfecta. Crit Rev Oral Biol Med 14: 387-398, 2003.