title: Frameshift mutation in the collagen VI gene causes Ullrich's disease.
abstract: Patients with Ullrich's disease have generalized muscle weakness, multiple contractures of the proximal joints, and hyperextensibility of the distal joints. Recently, we found a deficiency of collagen VI protein in two patients with Ullrich's disease. In this study, we detected a homozygous 26 bp deletion in exon 14 of the collagen VI alpha 2 gene (COL6A2) in one patient. This mutation causes a frameshift and a premature termination codon, and results in a truncated collagen VI alpha 2 chain. Our data suggest that at least some cases of Ullrich's disease result from recessive mutations in COL6A2.
authors.affiliation: Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Japan. ihiguchi@med6.kufm.kagoshima-u.ac.jp
authors.forename: I
authors.initials: I
authors.lastname: Higuchi
authors.forename: T
authors.initials: T
authors.lastname: Shiraishi
authors.forename: T
authors.initials: T
authors.lastname: Hashiguchi
authors.forename: M
authors.initials: M
authors.lastname: Suehara
authors.forename: T
authors.initials: T
authors.lastname: Niiyama
authors.forename: M
authors.initials: M
authors.lastname: Nakagawa
authors.forename: K
authors.initials: K
authors.lastname: Arimura
authors.forename: I
authors.initials: I
authors.lastname: Maruyama
authors.forename: M
authors.initials: M
authors.lastname: Osame
mesh_terms: D000328:Adult; D003095:Collagen Diseases / Q000209:etiology* / Q000235:genetics* / Q000473:pathology; D024142:Collagen Type VI / Q000235:genetics*; D004252:DNA Mutational Analysis; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D009132:Muscles / Q000473:pathology
chemical_list: D024142:Collagen Type VI