Genetic abnormalities in Alport syndrome

What are the genetic abnormalities in Alport syndrome?

XLAS results from one of a variety of mutations in the gene for the alpha-5 chain of type IV collagen (COL4A5) on the X chromosome. The result is an alteration in the structure of the alpha-5 collagen chain, preventing normal incorporation of alpha-3 and alpha-4 collagen chains into basement membranes. ARAS results from homozygous or compound heterozygous mutations in both copies of either the COL4A3 or COL4A4 gene on chromosome 2. ADAS is caused by heterozygous mutations in either the COL4A3 or COL4A4 gene.

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