Case Report: a novel non-canonical splice site variant in COL4A5 in a patient with Alport syndrome
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By
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Xue Wang
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Linlin Dong
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Hui Qiu
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Beibei Wang
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Sanfeng Wang
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Weiran Zhou
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June 19, 2026
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Clinical Scorecard: Case Study: Identification of a Unique Non-Canonical Splice Site Variant in COL4A5 in a Patient Diagnosed with Alport Syndrome
At a Glance
| Category | Detail |
|---|
| Condition | Alport Syndrome |
| Key Mechanisms | Mutations in type IV collagen genes, particularly COL4A5, leading to renal function deterioration. |
| Target Population | Pediatric patients with suspected Alport syndrome. |
| Care Setting | Clinical genetic counseling and management. |
Key Highlights
- Identification of a novel non-canonical splice site variant in COL4A5.
- Proband presented with asymptomatic microscopic hematuria.
- Functional validation confirmed aberrant mRNA splicing leading to exon 38 skipping.
- Importance of whole-exome sequencing in diagnosing Alport syndrome.
- Challenges in diagnosing non-canonical splice site variants.
Guideline-Based Recommendations
Diagnosis
- Utilize whole-exome sequencing for definitive diagnosis of Alport syndrome.
Management
- Integrate functional validation for non-canonical splice site variants in clinical management.
Monitoring & Follow-up
- Regular urinalysis to monitor hematuria and renal function.
Risks
- Potential for missed diagnoses due to variants of uncertain significance.
Patient & Prescribing Data
Families with a history of Alport syndrome and identified genetic variants.
Genetic counseling is essential for affected families.
Clinical Best Practices
- Perform functional assays for non-canonical splice site variants.
- Conduct thorough family history assessments for genetic disorders.
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