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Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.

Gordon K C Leung1, H M Luk2, Vincent H M Tang3

  • 1Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.

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Summary

Functional analysis of variants improves RASopathies diagnosis. This integrated pipeline enhances genetic interpretation, aiding clinical decisions for rare genetic disorders.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Clinical Diagnostics

Background:

  • RASopathies are genetic disorders stemming from mutations in the RAS/MAPK pathway.
  • Next-generation sequencing (NGS) has advanced molecular diagnostics but increased variants of unknown significance (VUSs).
  • VUSs present challenges in clinical interpretation and genetic counseling for RASopathies.

Purpose of the Study:

  • To evaluate an integrated pipeline combining NGS and functional variant assessment for RASopathy diagnosis.
  • To improve the diagnostic yield and clinical interpretation of genetic variants in RASopathies.
  • To address the challenge of VUSs in the genetic diagnosis of RASopathies.

Main Methods:

  • A multigene NGS panel and Sanger sequencing were used for genetic analysis in 63 Chinese patients.
  • Functional assessment, alongside genetic and bioinformatic data, was employed to evaluate VUSs.
  • The study focused on patients negative for PTPN11 and HRAS mutations.

Main Results:

  • Twenty pathogenic mutations were identified, yielding an initial diagnostic rate of 31.7%.
  • Four VUSs were found in five patients; functional analysis confirmed pathogenicity for RAF1 and RIT1 VUSs.
  • Functional analysis increased the overall diagnostic yield to 36.5%.

Conclusions:

  • An integrated NGS and functional analysis pipeline enhances diagnostic yield for RASopathies.
  • Functional assessment is crucial for interpreting VUSs and aiding clinical translation.
  • This approach assists in the genetic diagnosis and clinical management of RASopathies.