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Area of Science:

  • Genetics
  • Nephrology
  • Molecular Biology

Background:

  • Up to 20% of individuals with suspected Alport syndrome lack identified disease-causing genetic variants.
  • This diagnostic gap arises from variants of uncertain significance or undetected pathogenic mutations.

Purpose of the Study:

  • To explore reasons for undetected disease-causing variants in Alport syndrome.
  • To discuss strategies for resolving variants of uncertain significance and identifying novel variants.
  • To emphasize the importance of continued clinical management for suspected cases.

Main Methods:

  • Review of genetic testing limitations in Alport syndrome.
  • Discussion of variant interpretation and resolution strategies (e.g., functional assays, segregation studies).
  • Exploration of advanced sequencing techniques (whole-exome, whole-genome, long-read) for identifying non-canonical splicing variants.

Main Results:

  • Variants of uncertain significance can often be resolved with further investigation.
  • Phenocopies and technical limitations of sequencing can contribute to missed diagnoses.
  • Advanced sequencing and RNA analysis can detect challenging splicing variants.

Conclusions:

  • A significant proportion of Alport syndrome cases remain undiagnosed due to limitations in current genetic testing.
  • Standardized management for suspected Alport syndrome is essential while awaiting diagnostic confirmation.
  • The underestimation of genetic contributions to kidney diseases is highlighted by these diagnostic challenges.