title: Identification of a new heterozygous point mutation in the COL1A2 gene leading to skipping of exon 9 in a patient with joint laxity, hyperextensibility of skin and blue sclerae. Mutations in brief no. 166. Online.
abstract: A heterozygous deletion of exon 9 in the COL1A2-mRNA of a patient with symptoms of both the Ehlers-Danlos-Syndrome and the Osteogensis Imperfecta is described. In the genomic DNA of the patient, exon 9 is homozygously present. We identified a novel heterozygous point mutation in the splice donor site of intron 9, leading to a G-->A substitution in position +5. This mutation leads to heterozygous skipping of exon 9 in the COL1A2-mRNA of this patient. The deletion results in a shortened (by 18 amino acids) but in frame 12(1) chain, which probably leads to the formation of abberantly processed triple helices.
authors.affiliation: Institut fr Medizinische Molekularbiologie, Medizinische Universität zu Lübeck, Ratzeburger Allee 160, D-23538 Lübeck, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Feshchenko
authors.forename: J
authors.initials: J
authors.lastname: Brinckmann
authors.forename: H W
authors.initials: HW
authors.lastname: Lehmann
authors.forename: H G
authors.initials: HG
authors.lastname: Koch
authors.forename: P K
authors.initials: PK
authors.lastname: Müller
authors.forename: S
authors.initials: S
authors.lastname: Kügler
mesh_terms: D017398:Alternative Splicing; D003094:Collagen / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000235:genetics; D005091:Exons / Q000235:genetics*; D006580:Genetic Carrier Screening; D006801:Humans; D007593:Joint Instability / Q000235:genetics*; D010013:Osteogenesis Imperfecta / Q000235:genetics; D017354:Point Mutation / Q000235:genetics*
chemical_list: D003094:Collagen