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Challenges in Clinicogenetic Correlations: One Phenotype - Many Genes.

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Summary

The "one-phenotype-many-genes" paradigm in movement disorders presents challenges in genetic diagnosis. Addressing these requires deep phenotyping, advanced bioinformatics, and collaborative clinical-molecular approaches for improved diagnostic yield.

Keywords:
geneticsgenotypemovement disorderneurogeneticsphenotype

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Area of Science:

  • Genetics
  • Neurology
  • Bioinformatics

Background:

  • The traditional
  • one-phenotype-one-gene
  • model in movement disorders is increasingly replaced by the
  • one-phenotype-many-genes
  • paradigm due to next-generation sequencing (NGS) advancements.
  • This shift complicates genotype-phenotype correlations and genetic diagnostics.

Purpose of the Study:

  • To review the challenges and propose solutions for the
  • one-phenotype-many-genes
  • paradigm in movement disorder diagnosis.
  • To outline future directions for improving genetic diagnostic yield.

Main Methods:

  • A scoping review was conducted to examine various aspects of identifying molecular causes for movement disorder phenotypes.

Main Results:

  • Key challenges include lack of gold standards, overlapping clinical spectra, inconsistent classification, patient selection for genetic testing, variant interpretation issues, and incomplete gene lists.
  • Proposed solutions involve deep phenotyping, genotype-phenotype integration, phenotype-specific algorithms, bioinformatic tools, and clinical-laboratory collaboration.

Conclusions:

  • Next-generation sequencing (NGS) offers significant potential but requires further development to enhance genetic diagnostic yield in movement disorders.
  • Future research should focus on post-NGS phenotyping, cohort analyses, genotype-phenotype integration, and gene networks to accelerate gene discovery and understand disease biology.