title: One Novel Frameshift Mutation on Exon 64 of COL7A1 Gene in an Iranian Individual Suffering Recessive Dystrophic Epidermolysis Bullosa.
abstract: Recessive dystrophic epidermolysis bullosa (RDEB) is an extremely rare subtype of bullous dermatosis caused by the COL7A1 gene mutation. After genomic DNA extraction from the peripheral blood sample of all subjects (3 pedigree members and 3 unrelated control individuals), COL7A1 gene screening was performed by PCR amplification and direct DNA sequencing of all of the coding exons and flanking intronic regions. Genetic analysis of the COL7A1 gene in an affected individual revealed a novel mutation: c.5493delG (p.K1831Nfs*10) in exon 64 of the COL7A1 gene in homozygous state. This mutation was not discovered in 3 unrelated Iranian control individuals. These data suggest that c.5493delG may influence the phenotype of RDEB. The result of this case report contributes to the expanding database on COL7A1 mutations.
authors.affiliation: Medical Genetic Department, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
authors.forename: Mahmoud Shekari
authors.initials: MS
authors.lastname: Khaniani
authors.affiliation: Medical Genetic Department, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
authors.forename: Nasrin
authors.initials: N
authors.lastname: Sohrabi
authors.affiliation: Department of Genetics, Faculty of Sciences, Islamic Azad University, Tabriz Branch, Tabriz, Iran.
authors.forename: Neda Mansoori
authors.initials: NM
authors.lastname: Derakhshan
authors.affiliation: Medical Genetic Department, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran mderakhshan2002@gmail.com.
authors.forename: Sima Mansoori
authors.initials: SM
authors.lastname: Derakhshan
mesh_terms: D002675:Child, Preschool; D018389:Codon, Nonsense; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000209:etiology / Q000235:genetics*; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D005820:Genetic Testing; D006720:Homozygote; D006801:Humans; D007492:Iran; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: C569053:COL7A1 protein, human; D018389:Codon, Nonsense; D024143:Collagen Type VII
keywords: COL7A1 gene; Mutation analysis; Recessive dystrophic epidermolysis bullosa