title: Novel mitochondrial DNA transversion mutation in transfer ribonucleic acid for leucine 2 (CUN) in a patient with the clinical features of MELAS.
abstract: 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.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. kamero@kfshrc.edu.sa
authors.forename: Khaled K
authors.initials: KK
authors.lastname: Abu-Amero
authors.forename: Pinar T
authors.initials: PT
authors.lastname: Ozand
authors.forename: Hesham
authors.initials: H
authors.lastname: Al-Dhalaan
mesh_terms: D000926:Anticodon / Q000235:genetics; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics*; D008297:Male; D009690:Nucleic Acid Conformation; D017354:Point Mutation; D012356:RNA, Transfer, Leu / Q000737:chemistry / Q000235:genetics*
chemical_list: D000926:Anticodon; D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu