Inversa dystrophic epidermolysis bullosa is caused by missense mutations at specific positions of the collagenic domain of collagen type VII

Journal of Investigative Dermatology

Volumn 130, Issue 10, 2010, Pages 2508-2511

  Chiaverini, Christine ^a   Charlesworth, Alexandra V ^a,b   Youssef, Monia ^a   Cuny, Jean François ^c   Rabia, Smail H ^d   Lacour, Jean Philippe ^a,b,e   Meneguzzi, Guerrino ^b,e  

^a CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^b INSERM   (France)

^c SERVICE DE DERMATOLOGIE   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e UNIVERSITÉ CÔTE D'AZUR   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 7; COLLAGEN TYPE 7A1; UNCLASSIFIED DRUG;

ALLELE; CLINICAL FEATURE; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENE MAPPING; HUMAN; LETTER; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; SKIN EXAMINATION; CHEMISTRY; GENETICS; PROTEIN TERTIARY STRUCTURE;

COLLAGEN TYPE VII; EPIDERMOLYSIS BULLOSA DYSTROPHICA; HUMANS; MUTATION, MISSENSE; PROTEIN STRUCTURE, TERTIARY;

EID: 77956885861     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2010.159     Document Type: Letter

References (15)

1. Baldeschi C, Gache Y, Rattenholl A et al. (2003) Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Hum Mol Genet 12:1897-1905
2. Charlesworth A, Gagnoux-Palacios L, Bonduelle M et al. (2003) Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin. J Invest Dermatol 121:1344-1348
3. Christiano AM, Greenspan DS, Lee S et al. (1994) Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms. J Biol Chem 269:20256-20262
4. Christiano AM, McGrath JA, Tan KC et al. (1996) Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance. Am J Hum Genet 58:671-681
5. Dang N, Murrell DF (2008) Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Exp Der-matol 17:553-568
6. Fine JD, Eady RA, Bauer EA et al. (2008) The classification of inherited epidermolysis bullo-sa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 58:931-950
7. Fritsch A, Spassov S, Elfert S et al. (2009) Dominant-negative effects of COL7A1 mutations can be rescued by controlled over-expression of normal collagen VII. J Biol Chem 284:30248-30256
8. Hovnanian A, Hilal L, Blanchet-Bardon C et al. (1994) Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa. Am J Hum Genet 55:289-296
9. Kern JS, Gruninger G, Imsak R et al. (2009) Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort. Br J Dermatol 161:1089-1097
10. King RA, Townsend D, Oetting W et al. (1991) Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocuta-neous albinism. J Clin Invest 87:1046-1053
11. Morley SM, Dundas SR, James JL et al. (1995) Temperature sensitivity of the keratin cyto-skeleton and delayed spreading of keratino-cyte lines derived from EBS patients. J Cell Sci 108(Pt 11):3463-3471
12. Oji V, Hautier JM, Ahvazi B et al. (2006) Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. Hum Mol Genet 15: 3083-3097
13. Persikov AV, Pillitteri RJ, Amin P et al. (2004) Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders. Hum Mutat 24:330-337
14. Xu K, Nowak I, Kirchner M et al. (2008) Recombinant collagen studies link the severe conformational changes induced by osteo-genesis imperfecta mutations to the disruption of a set of interchain salt bridges. J Biol Chem 283:34337-34344
15. Woodley DT, Hou Y, Martin S et al. (2008) Characterization of molecular mechanisms underlying mutations in dystrophic epider-molysis bullosa using site-directed mutagen-esis. J Biol Chem 283:17838-17845