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Detection of mutations in COL4A5 in patients with Alport Syndrome

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

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
322 KB
Volume
13
Category
Article
ISSN
1059-7794

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✦ Synopsis

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.

📜 SIMILAR VOLUMES

Spectrum of COL4A5 mutations in Finnish
Spectrum of COL4A5 mutations in Finnish Alport syndrome patients
✍ Paula Martin; Niina Heiskari; Heli Pajari; Carola Grönhagen-Riska; Helena Kääriä 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 76 KB

Alport syndrome (AS) is a hereditary kidney disorder, mainly caused by mutations in the Xchromosomal gene (COL4A5) encoding the type IV collagen α α5 chain. In this study, detection of COL4A5 mutations was performed in 17 Finnish Alport syndrome families. Regions around the 51 previously known exons