Autosomal Alport syndrome is a disorder caused by homozygous or heterozygous mutations in the COL4A3 (2q36.3) and COL4A4 (2q36.3), coding for the α3 and α4 chain of type IV collagen, respectively. The linked Alport syndrome X is caused by mutations in the COL4A5 gene located at Xq22.3.
This pathology is characterized by alterations in the basement membrane, leading to a glomerulonephropathy that it can eventually cause kidney failure. May also occur with deafness, cochlear and ocular abnormalities. Presence of hematuria, proteinuria, and hypertension, are some of the features of the syndrome.
In 85% of cases of Alport syndrome, the disease is inherited in an X-linked, and 15% autosomal recessive. Autosomal dominant inheritance is rare.
Alport syndrome is predominantly an X-linked disease so that clinical manifestations of the disease are usually more severe in affected males However, women affected with either syndrome autosomal or X-linked recessive, also may have a severe phenotype.
Bioarray provides sequencing COL4A3, COL4A4 and COL4A5 through NGS technology for the detection of a broad spectrum of phenotypes associated with Alport syndrome, including Alport syndrome X-linked, autosomal recessive and autosomal dominant Alport syndrome.