OCTN2 mutation (R254X) found in Saudi Arabian kindred: recurrent mutation or ancient founder mutation?
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 anti-murine OCTN2 antibody revealed the absence of the OCTN2 protein.
Lamhonwah
A-M
AM
Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
Onizuka
R
R
Olpin
S E
SE
Muntoni
F
F
Tein
I
I
D015153:Blotting, Western; D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D005260:Female; D005347:Fibroblasts / Q000737:chemistry; D006801:Humans; D009154:Mutation; D027701:Organic Cation Transport Proteins / Q000172:deficiency / Q000235:genetics*; D012529:Saudi Arabia; D000074058:Solute Carrier Family 22 Member 5
D027701:Organic Cation Transport Proteins; C492020:SLC22A5 protein, human; D000074058:Solute Carrier Family 22 Member 5; D004247:DNA