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- Published: December 6, 2019
- By: Alejandro Best, MD
Alport syndrome (AS) is a heterogeneous genetic disorder caused by mutations in the α-chain (3, 4 or 5) of the collagen IV genes. Collagen IV is a major component of basement membranes and comprises six genetically distinct α-chains: α1(IV) through α6(IV). Human collagen IV genes are arranged in three pairs with head-to-head orientation: COL4A1 and COL4A2 (chromosome 13), COL4A3 and COL4A4 (chromosome 2) and COL4A5 and COL4A6 (X-chromosome). Each α-chain contains three domains: a short 7S N-terminal domain, a midsection collagenous domain and a C-terminal noncollagenous domain (NC1). α-chains form heterotrimeric molecules called promoters. While 56 theoretical combinations exist, only...