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
✍ Scribed by Sergej Feshchenko; Jürgen Brinckmann; Hartwig W. Lehmann; Hans-Georg Koch; Peter K. Müller; Sebastian Kügler
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 52 KB
- Volume
- 12
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
A heterozygous deletion of exon 9 in the COL1A2 -mRNA of a patient with symptoms of both the Ehlers -Danlos -Syndrome and the Osteogenesis 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 2(1) chain, which probably leads to the formation of abberantly processed triple helices.