A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV.
Open Access
- 1 May 1993
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 30 (5) , 376-380
- https://doi.org/10.1136/jmg.30.5.376
Abstract
Ehlers-Danlos syndrome type IV is usually caused by mutations in COL3A1, the gene coding for type III collagen. In a woman with a milder form of this disease, analysis of type III collagen synthesised by her cultured skin fibroblasts showed an apparently shorter form of the protein. Amplification of overlapping cDNAs, encoding the triple helical region of the molecule, showed a deletion near the 5' end of the gene. Sequencing showed that exon 7 was missing from the cDNA sequence. Analysis of genomic DNA showed that this was the result of a T+6 to C+6 mutation in the donor splice site of intron 7. The proband's parents and 35 normal controls were homozygous for T+6 at this position, indicating that the C+6 mutation was causative.Keywords
This publication has 22 references indexed in Scilit:
- A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutationHuman Genetics, 1992
- A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IVHuman Genetics, 1992
- Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.Journal of Medical Genetics, 1991
- Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigreeHuman Genetics, 1988
- Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagenHuman Genetics, 1986
- Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell AnemiaScience, 1985
- Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries.Proceedings of the National Academy of Sciences, 1985
- The U1 small nuclear RNA-protein complex selectively binds a 5′ splice site in vitroCell, 1983
- Specific transcription and RNA splicing defects in five cloned β-thalassaemia genesNature, 1983
- Organization and Expression of Eucaryotic Split Genes Coding for ProteinsAnnual Review of Biochemistry, 1981