GENOTYPE AND PHENOTYPE CORRELATION OF DYSTROPHIC EPIDERMOLYSIS BULLOSA

Dystrophic epidermolysis bullosa (DEB) is a heritable mechanobullous skin disease derived from mutations in the type VII collagen gene (COL7A)). DEB cases are divided into dominant dystrophic EB (DDEB) and recessive dystrophic EB (RDEB). Most of the DDEB cases are induced by glycine substitution (GS) mutation because of its dominant negative effect, although there are silent GS which are not pathogenic without combination of other mutation in COL7Al. To know the relations between clinical features and COL7A) mutations, we examined COL7A) gene mutation in two Japanese families with DEB. one is dominantly inherited and another is sporadic. We identified three mutations; 8068de117ins2 in case L G2395D/152de1G in case 2. Case 1 is DDEB, which does not result from GS but from insertion/deletion mutation. In case 2, GS does not result in DDEB but causes recessive DEB (RDEB) with the combination of premature termination codon (PTC) in non-collagenous amino-terminal region (NC-l). This study demonstrates novel COL7A) mutations for DEB and furthers our understanding of genotype-phenotype correlation displayed in DEB patients. Hirosaki Med. ). 59: 33-40, 2007 f.PS *1!t~~~~&:J)(#@;jj£, Dystrophic epidermolysis bullosa (DEB) Lt, fl~l¥JJ1iljlltt: J: IJ J)(#@~~ t.: ~ .il:fid1: &:Jf~§;U!, -c:, VII ~::I 7 - IT' / ;iftf~-=f (COL7A)) O)~~j'j{JJR~ c tj ~. *5t~~~~&:J)(#@;jj£l±, fJH1:*5t~~~ dominant dystrophic EB (DDEB) c ~tl=.*5t~~~ recessive dystrophic EB (RDEB) c t:7t~t Gn~. tl c Iv c~O) DDEBl±, 7"1) ~/ti~~~ (GS) 0) dominant negative effectt:J:~-C~t. :~. Lj'j>L, GSO)9=Jt:l±, silent cP-:) -c, COL7A)1t!!0)~~ c @.c1}.~b-tt- C:d'l tj pc. fflI¥JJl~~ 'b t.: tj p 'b 0) 'b ~ ~. COL7A) t:.:B ~t ~ 1ijj£;jX c ;iftf~-=f ~0)~1*~1JjJ G j'j>t:-t~ t.:~. DEB O)~tt~~~. !j!~~ 2 **t:"':)P-C, COL7A) gene 0)~~~~~1T~t.:. ;jj£f71J 1 t: 8068de117ins2 ~, ;jj£f71J 2 t:l± G2395D c 152deiG O)fJTm~~~IIlJ~Lt.:. ;jj£f71J 1 l± DDEB -C:~~j'j{. GS -C:l±tj t: -t~ c c 'b t:. *;jj£0).:B