Identification and pathogenicity analysis of a novel intronic COL4A5 variant in a Chinese family

1

A novel intronic variant (c.1587+4A>G) in the COL4A5 gene was identified in a Chinese family affected by X-linked Alport syndrome.
2

The proband, a 5-year-old male, exhibited microhematuria and had relatives with a history of renal disease and advanced renal failure.
3

Sanger sequencing confirmed that the identified variant co-segregated with the disease phenotype in affected family members.
4

Functional assays demonstrated that the variant causes abnormal mRNA splicing, leading to exon 23 skipping and a premature termination codon.
5

This study highlights the importance of transcript analysis for intronic variants and expands the mutational spectrum of COL4A5 in Alport syndrome.

1