title: A new glycine substitution mutation in the COL7A1 gene in a Chinese family with dominant dystrophic epidermolysis bullosa.
abstract: Dystrophic epidermolysis bullosa (DEB) is caused by mutations in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils. The characteristic genetic lesion in dominant DEB (DDEB) is a glycine substitution in the collagenous domain of the protein. In this study, we identified a Chinese family with a four-generation pedigree of DDEB, in whom a novel glycine substitution mutation in COL7A1 was demonstrated. A heterozygous nucleotide G-->A transition at position 6208 in exon 74 of COL7A1 was detected, which resulted in a glycine to arginine substitution (G2070R) in the triple-helical domain of type VII collagen. This substitution was not found in 110 unrelated normal alleles. This report emphasizes the predominance of glycine substitution mutations in DDEB and contributes to the expanding database on COL7A1 mutations.
authors.affiliation: Institute of Dermatology, Anhui Medical University, Hefei, Anhui, People's Republic of China. ayzxj@mail.hf.ah.cn
authors.forename: X J
authors.initials: XJ
authors.lastname: Zhang
authors.forename: Y X
authors.initials: YX
authors.lastname: Song
authors.forename: X Q
authors.initials: XQ
authors.lastname: Zhang
authors.forename: S
authors.initials: S
authors.lastname: Yang
authors.forename: M
authors.initials: M
authors.lastname: Li
authors.forename: C R
authors.initials: CR
authors.lastname: Li
authors.forename: C J
authors.initials: CJ
authors.lastname: Yang
authors.forename: J
authors.initials: J
authors.lastname: Yang
mesh_terms: D000293:Adolescent; D002681:China / Q000208:ethnology; D024143:Collagen Type VII / Q000235:genetics; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005998:Glycine / Q000235:genetics*; D006801:Humans; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D024143:Collagen Type VII; D005998:Glycine