Table 2

Mutations of the genes coding for alpha chains of type IV collagen in AS

Type of alpha (IV) chainGenesLocation on the chromosomeRelevant mutation found in
Alpha-1COL4A113Not known
Alpha-2COL4A213Not known
Alpha-3COL4A32q36-q37ARAS*
Alpha-4COL4A42q36-q37ARAS
Alpha-5COL4A5Xq22.3XLAS†
Alpha-6COL4A6XLeiomyomatosis‡

  • *Autosomal recessive AS (mutations spanning 5’ regions of COL4A5 and COL4A6 genes).

  • †X-linked AS: to date, more than 300 mutations of all types have been described in the COL4A5 gene.

  • ‡Found in autosomal recessive AS.

  • AS, Alport’s syndrome.