Alport Syndrome Gene Panel
PD Dr. med. Julia Höfele
The Alport syndrome is a progressive hereditary nephropathy. Initial clinical symptoms are proteinuria and hematuria which gradually progress to end-stage renal disease (ESRD). Extra-renal manifestations include sensorineural hearing loss and ocular abnormalities (anterior lenticonus). The Alport syndrome is mainly caused by abnormalities in the type IV collagen which lead to structural defects of the glomerular basement membrane (COL4A3, COL4A4, COL4A5). Depending on the affected gene, inheritance is x-chromosomal, autosomal recessive, or autosomal dominant. Mutations in the MYH9 gene are a cause of Fechtner syndrome, which is characterized by macrothrombocytopenia, possibly glomerulonephritis, hearing loss, and cataract.
All coding exons and their flanking intronic sequences from the genes in the Alport syndrome gene panel are analyzed either by Sanger sequencing or by next generation sequencing (NGS).