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

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 do...

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Bibliographic Details
Published in:Human mutation 1998, Vol.12 (2), p.138-138
Main Authors: Feshchenko, Sergej, Brinckmann, Jürgen, Lehmann, Hartwig W., Koch, Hans-Georg, Müller, Peter K., Kügler, Sebastian
Format: Article
Language:English
Subjects:
Ehlers-Danlos syndrome
Osteogenesis imperfecta
splicing mutations
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Summary: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 l2(1) chain, which probably leads to the formation of abberantly processed triple helices. Hum Mutat 12:138, 1998. © 1998 Wiley‐Liss, Inc.
ISSN:1059-7794
1098-1004
DOI:10.1002/(SICI)1098-1004(1998)12:2<138::AID-HUMU17>3.0.CO;2-D