A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a Patient with Cytochrome c Oxidase-Deficient Leigh Syndrome and Hypertrichosis

• Published in: Molecular genetics and metabolism Vol. 73; no. 4; pp. 340 - 343
• Main Authors: Williams, Siôn L, Taanman, Jan-Willem, Hansı́ková, Hana, Houšt'ková, Hana, Chowdhury, Subir, Zeman, Jiřı́, Houštěk, Josef
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.08.2001
• Subjects: Alternative Splicing - genetics; Base Sequence; Blotting, Western; Cytochrome-c Oxidase Deficiency; Electron Transport Complex IV - genetics; Electron Transport Complex IV - metabolism; exon skipping; Exons - genetics; Female; Fibroblasts; Humans; hypertrichosis; Hypertrichosis - enzymology; Hypertrichosis - genetics; Infant; Leigh Disease - enzymology; Leigh Disease - genetics; Leigh syndrome; Membrane Proteins; mitochondrial disorder; Mitochondrial Proteins; Mutation - genetics; Polymerase Chain Reaction; Proteins - genetics; RNA, Messenger - genetics; RNA, Messenger - metabolism; Sequence Deletion - genetics; SURF1; hypertrichosis; SURF1; Leigh syndrome; cytochrome c oxidase deficiency; exon skipping; mitochondrial disorder

Leigh syndrome is a rare pediatric neurodegenerative disorder attributed to impaired mitochondrial energy metabolism. Mutations in SURF1 have been described in several patients with Leigh syndrome associated with cytochrome c oxidase deficiency. We report a new 18-bp deletion (821del18), spanning th...