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OCTN2 mutation (R254X) found in Saudi Arabian kindred: recurrent mutation or ancient founder mutation?

A-M Lamhonwah1, R Onizuka, S E Olpin

  • 1Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.

Journal of Inherited Metabolic Disease
|August 11, 2004
PubMed
Summary

A mutation in the OCTN2 gene causes carnitine transport defects. This specific mutation, previously found in China, is now identified in a Saudi Arabian family, suggesting it may be recurrent or ancient.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Biochemistry

Background:

  • The OCTN2 gene encodes a protein crucial for carnitine transport.
  • A specific truncating mutation, R254X, in OCTN2 causes defective high-affinity carnitine transport.
  • This R254X mutation was previously identified as a founder mutation in the Chinese population.

Observation:

  • A Saudi Arabian kindred presented with a mutation in the OCTN2 gene.
  • The proband's skin fibroblast lysates were analyzed using Western blot with an anti-murine OCTN2 antibody.
  • Analysis revealed the complete absence of the OCTN2 protein in the affected individuals.

Findings:

  • The Saudi Arabian kindred carries the identical R254X truncating mutation in the OCTN2 gene.
  • The absence of OCTN2 protein confirms the functional consequence of the mutation.

Related Experiment Videos

  • This finding suggests the R254X mutation may be a recurrent mutation or an ancient founder mutation in diverse populations.

    • Implications:

    • The identification of the R254X mutation in a Saudi Arabian population expands our understanding of its prevalence.
    • This suggests the mutation's origin might be ancient or it may arise recurrently in different ethnic groups.
    • Further research is warranted to investigate the evolutionary history and broader distribution of this specific OCTN2 mutation.