genetics

Last reviewed 09/2021

Alport's syndrome is the commonest form of hereditary glomerulopathy.

The disordered basement membranes suggested that type IV collagen might be implicated in the pathogenesis.

Study of type IV collagen mutations has clarified the inheritance of Alport's syndrome:

• the alpha-5 gene for type IV collagen is found on the X chromosome, mutations in this gene explains the X-linked inheritance seen in some families

• the alpha-3 and alpha-4 genes for type IV collagen are found on chromosome 2, mutations in these genes seem to explain the autosomal recessive forms of Alport's syndrome

Reference:

• Mochizuki, T. et al. Identification of mutations in the alpha-3 and alpha-4 (IV) collagen genes in autosomal recessive Alport syndrome. Nat. Genet. 1994;8:77-81.