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. Mutation
Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome
✍ Scribed by Smeets, Hubert JM; Melenhorst, Jos J; Lemmink, Henny H; Schröder, Cock H; Nelen, Marcel R; Zhou, Jing; Hostikka, Sirkka L; Tryggvason, Karl; Ropers, Hans-Hilger; Jansweijer, Maaike CE
- Book ID
- 109882118
- Publisher
- Nature Publishing Group
- Year
- 1992
- Tongue
- English
- Weight
- 751 KB
- Volume
- 42
- Category
- Article
- ISSN
- 0085-2538
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A population of 35 Alport syndrome patients, defined by strict diagnostic criteria, was screened for mutations in 23 exons of the COL4A5 gene by SSCP analysis. Mobility shifts were observed in 12 out of 35 patients and were shown to represent genuine mutations. 9 of these were glycine substitutions
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