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Journal of Child Neurology
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Novel Mitochondrial DNA Transversion Mutation in Transfer Ribonucleic Acid for Leucine 2 (CUN) in a Patient With the Clinical Features of MELAS

Khaled K. Abu-Amero, PhD

Department of Genetics King Faisal Specialist Hospital and Research Center, kamero{at}kfshrc.edu.sa.

Pinar T. Ozand, MD, PhD

Department of Genetics King Faisal Specialist Hospital and Research Center

Hesham Al-Dhalaan, MD

Department of Neurosciences King Faisal Specialist Hospital and Research Center Riyadh, Saudi Arabia

We describe an 11-year-old Saudi boy who had an encephalopathy suggestive of mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS). We screened his entire mitochondrial DNA coding region and detected one novel transversion point mutation at nt-12299 A > C in the transfer ribonucleic acid for leucine 2 (CUN) that is located in the anticodon loop. We believe that this mutation is the cause of his disease condition. (J Child Neurol 2006;21:971—972; DOI 10.2310/7010.2006.00208).

Journal of Child Neurology, Vol. 21, No. 11, 971-972 (2006)
DOI: 10.1177/08830738060210110601
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