title: Hallopeau-Siemens dystrophic epidermolysis bullosa due to homozygous 5818delC mutation in the COL7A gene.
abstract: Epidermolysis bullosa (EB) is a group of inherited mechanobullous skin disease. The dystrophic EB (DEB), one subtype of EB, is inherited in an autosomal dominant DEB or in an autosomal recessive (RDEB). DEB is caused by mutations in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils. Over 300 pathogenic mutations have been detected within COL7A in DEB. Patients with the Hallopeau-Siemens type (HS-RDEB), most severe form of DEB, frequently have premature termination codon (PTC) mutations on both alleles. PTC mutations on both alleles result in depleted mRNA and α1 helix, and failure to form the triple helix structure characteristic of type VII collagen. As patients with HS-RDEB usually have a pair of heterozygous PTC mutations, there have been rarely reported homozygous ones in HS-RDEB. We report the first case of HS-RDEB homozygous PTC mutations of 5818delC in both COL7A1 alleles. This case report suggests the positional effect of PTC mutations and vigilance against early infantile death in EB including HS-RDEB.
authors.affiliation: Department of Pediatrics, Shiga University of Medical Science, Otsu, Japan. koshida@belle.shiga-med.ac.jp
authors.forename: Shigeki
authors.initials: S
authors.lastname: Koshida
authors.forename: Atsushi
authors.initials: A
authors.lastname: Tsukamura
authors.forename: Takahide
authors.initials: T
authors.lastname: Yanagi
authors.forename: Sayuri
authors.initials: S
authors.lastname: Nakahara
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Takeuchi
authors.forename: Takashi
authors.initials: T
authors.lastname: Kato
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Tanaka
authors.forename: Hajime
authors.initials: H
authors.lastname: Nakano
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Shimizu
mesh_terms: D000483:Alleles; D024143:Collagen Type VII / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012333:RNA, Messenger / Q000235:genetics*; D012867:Skin / Q000473:pathology
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII; D012333:RNA, Messenger