Whole exome sequencing shows novel COL4A3 and COL4A4 variants as causes of Alport syndrome in Rio Grande do Norte, Brazil.

ABSTRACT:

Background

Alport syndrome is a progressive and hereditary nephropathy characterized by hematuria and proteinuria as well as extra renal manifestations as hearing loss and eye abnormalities. The disease can be expressed as autosomal recessive or autosomal dominant at COL4A3 and COL4A4 loci, respectively, or X-linked at the COL4A5 locus. This study investigated two unrelated families with nephropathy from Brazil with the aim to identify the mutations involved with the disease.

Methods

Whole Exome Sequencing was performed for 4 people from each pedigree (case, parents and a sibling). DNA sequences were mapped against the human genome (GRCh38/hg38 build) to identify associated mutations.

Results

Two novel deleterious variants in COL4A3 and COL4A4 loci on chromosome 2 wer

SUBMITTER: de Araujo WC 

PROVIDER: S-EPMC11963644 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature