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.
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.
Feshchenko
S
S
Institut fr Medizinische Molekularbiologie, Medizinische Universität zu Lübeck, Ratzeburger Allee 160, D-23538 Lübeck, Germany.
Brinckmann
J
J
Lehmann
H W
HW
Koch
H G
HG
Müller
P K
PK
Kügler
S
S
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*
D003094:Collagen