Article Text

PDF

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.
  1. J Lloyd,
  2. P Narcisi,
  3. A Richards,
  4. F M Pope
  1. Dermatology Research Group, Clinical Research Centre, Harrow, Middlesex, UK.

    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.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.