To report a novel splicing variant in the COL4A5 gene associated with Alport syndrome.
Approach:
Key Findings:
The identified COL4A5 variant (c.3374-3T > G) is a novel pathogenic non-canonical splice site mutation.
The variant leads to exon 38 skipping, confirming its role in the genetic etiology of Alport syndrome in the proband's family.
Interpretation:
The findings highlight the necessity of functional validation for accurate diagnosis.
Limitations:
The study is based on a single family case, limiting generalizability.
Information regarding the grandparents' clinical status was not available.
Conclusion:
The study highlights the importance of integrating whole-exome sequencing with functional assays for the diagnosis of non-canonical splice site variants in Alport syndrome.
