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Detection of mutations in COL4A5 in patients with Alport Syndrome by Kate E. Plant; Peter M. Green; David Vetrie; Frances A. Flinter is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Detection of mutations in COL4A5 in patients with Alport Syndrome about?

Alport syndrome (AS) can be caused by mutations in COL4A5, one of the six type IV collagen genes. For the purposes of confirming diagnoses, carrier screening and correlating genotype to phenotype, we have screened all 51 exons of this gene by SSCP analysis in 153 families with suspected AS. Mutations were identified in 77 families (of which 20 have previously been reported) and are reported with all available clinical information. All types of mutation were found (missense, nonsense, splicing, small and large deletions and insertions), with the commonest type being those affecting glycine residues in the collagen triple helix. Our 50% detection rate is similar to that of other groups and may imply the presence of mutations outside of the COL4A5 coding region or the existence of a second X-linked AS gene. Hum Mutat 13:124132, 1999.

Who reads Detection of mutations in COL4A5 in patients with Alport Syndrome?

Author

Kate E. Plant; Peter M. Green; David Vetrie; Frances A. Flinter

Publisher

Hindawi Limited

Published

1999

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)