title: Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.
abstract: Mutations in the type VII collagen gene (COL7A1) have been shown to underlie different variants of dystrophic epidermolysis bullosa (DEB). Examination of the genetic database indicates that most of the mutations are family specific, with few recurrent mutations. To facilitate further refinement of genotype/phenotype correlations in DEB, we have examined a cohort of nine families with DEB (seven recessively and two dominantly inherited) by a mutation detection strategy based on polymerase chain reaction amplification of COL7A1 genomic sequences, followed by heteroduplex scanning and direct nucleotide sequencing. The results revealed 16 allelic mutations, 11 of them being novel, previously unpublished. The genetic information was also used for prenatal testing in a family at risk for recurrence of a severe, Hallopeau-Siemens type of RDEB. These data contribute to the expanding database of COL7A1 mutations in DEB.
authors.affiliation: Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.
authors.forename: A
authors.initials: A
authors.lastname: Kon
authors.forename: L
authors.initials: L
authors.lastname: Pulkkinen
authors.forename: A
authors.initials: A
authors.lastname: Ishida-Yamamoto
authors.forename: I
authors.initials: I
authors.lastname: Hashimoto
authors.forename: J
authors.initials: J
authors.lastname: Uitto
mesh_terms: D000328:Adult; D000368:Aged; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D003094:Collagen / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree
chemical_list: D003094:Collagen