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Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia.

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Area of Science:

  • Neurogenetics
  • Rare hereditary diseases

Background:

  • Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders causing lower-limb spasticity.
  • CPT1C gene variants have been previously suggested as a potential cause for HSP.

Purpose of the Study:

  • To determine if CPT1C loss-of-function (LOF) variants are causally associated with hereditary spastic paraplegias (HSPs).

Main Methods:

  • Analysis of whole-genome sequencing data from UK Biobank (UKBB).
  • Examination of whole-exome sequencing data from a Canadian HSP cohort (Can-HSP).
  • Genetic analysis of the GENESIS cohort, an international rare disease cohort.

Main Results:

  • No HSP phenotypes were observed in over 170 CPT1C LOF carriers within the UKBB (n=150,119).
  • No CPT1C LOF variants were identified in 585 HSP patients from the Can-HSP cohort.
  • While three individuals with CPT1C LOF variants in the GENESIS cohort (n=21,217) had HSP, they also carried variants in known HSP genes.

Conclusions:

  • The study provides evidence against a causal role for CPT1C LOF variants in the development of HSP.
  • Further research may be needed to fully elucidate the genetic architecture of HSPs.