Article
A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family.
Genetic testing and molecular biomarkers - 1 Mar 2013
Uzak Asli Subasioglu, Tokgoz Bulent, Dundar Munis, Tekin Mustafa
Abstract excerpt
BACKGROUND: Alport syndrome (AS) is a genetically heterogeneous disorder that is characterized by hematuria, progressive renal failure typically resulting in end-stage renal disease, sensorineural hearing loss, and variable ocular abnormalities. Only 15% of cases with AS are autosomal recessive and are caused by mutations in the COL4A3 or COL4A4 genes, encoding type IV collagen. METHODS: Clinical data in a large...
Topics
- Adult
- Autoantigens
- Collagen Type IV
- Female
- Genes, Recessive
- Genotype
- Humans
- Male
- Mutation
- Nephritis, Hereditary
- Pedigree
- Turkey