This study summarizes 47 novel mutations identified during routine molecular diagnostics for Alport syndrome. We detected 34 in COL4A5, the gene responsible for X-linked Alport syndrome, and 13 in COL4A3 and COL4A4, the genes responsible for autosomal recessive Alport syndrome. A high detection rate
Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 gene
β Scribed by M.A Blasi; R Rinaldi; A Renieri; R Petrucci; C De Bernardo; M Bruttini; P Grammatico
- Book ID
- 117017191
- Publisher
- Elsevier Science
- Year
- 2000
- Tongue
- English
- Weight
- 208 KB
- Volume
- 130
- Category
- Article
- ISSN
- 0002-9394
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Fourteen Italian patients affected with X-linked Alport syndrome were analyzed by Southern blotting, using cDNA probes of the COL4A5 gene. One proband was shown to carry a large deletion (greater than 38 kb) that included the 5' part of the gene.
Alport syndrome is a progressive renal disease leading to chronic renal failure, which often is accompanied by sensorineural deafness and ophthalmological signs in the form of anterior lenticonus. The X-linked form of the disease is caused by mutations in the COL4A5 gene encoding the a5-chain of typ