Non-collagen genes role in digenic Alport syndrome.

ABSTRACT:

Background

Alport syndrome is a clinically heterogeneous nephropathy characterized by severe symptomatology at kidney level due to ultrastructural lesions of the glomerular basement membrane (GBM) as consequence of mutations in COL4 genes. The disease has been linked to COL4A3/COL4A4/COL4A5 mutations, which impair GBM functionality and can be inherited in a dominant, recessive or X-linked transmission. Although a targeted Next Generation Sequencing approach has allowed identifying families with pathogenic mutations in more than one COL4 α3-α4-α5 heterotrimer encoding genes, leading to conclude for a digenic pattern of inheritance, the role of non-collagen genes in digenic Alport syndrome has not yet been established.

Methods

We employed a whole-exome sequencing approach on t

SUBMITTER: Daga S 

PROVIDER: S-EPMC6391820 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature