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

Journal of inherited metabolic disease - 1 Jan 2004

Lamhonwah A-M, Onizuka R, Olpin S E, Muntoni F, Tein I

Abstract excerpt

The truncating R254X mutation in the OCTN2 gene results in defective high-affinity carnitine transport and has been previously described as a founder mutation in the Chinese population. We now report a Saudi Arabian kindred with this same mutation, suggesting that it may be a recurrent mutation or a very ancient founder mutation. Western blot analysis of skin fibroblast lysates from the proband with our specific...

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PMID: 15303004
DOI: 10.1023/B:BOLI.0000037339.25821.87

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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