Diagnostic difficulties with common SURF1 mutations in patients with cytochrome oxidase-deficient leigh syndrome

Journal of Inherited Metabolic Disease

Volumn 27, Issue 1, 2004, Pages 57-65

  Head, R A ^a   Brown, R M ^a   Brown, Garry K ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CYTOCHROME C OXIDASE; DEOXYRIBONUCLEOPROTEIN; GENOMIC DNA; HETERODUPLEX; PROTEIN SURF1; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CYTOCHROME C OXIDASE DEFICIENCY; DIAGNOSTIC TEST; DNA DETERMINATION; DNA SEQUENCE; DONOR SITE; EXON; GENE AMPLIFICATION; GENE INSERTION; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; INFANT; INTRON; LEIGH DISEASE; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION;

ALTERNATIVE SPLICING; BASE SEQUENCE; CELLS, CULTURED; CYTOCHROME-C OXIDASE DEFICIENCY; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; DNA TRANSPOSABLE ELEMENTS; DNA, COMPLEMENTARY; EXONS; GENE AMPLIFICATION; GENE DELETION; HETEROZYGOTE; HUMANS; INTRONS; LEIGH DISEASE; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEIC ACID HETERODUPLEXES; POLYMERASE CHAIN REACTION; PROTEINS; RNA SPLICE SITES;

EID: 1842433759     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000016622.05609.b8     Document Type: Article

References (8)

1. Hayasaka K, Brown GK, Danks DM, Droste M, Kadenbach B (1989) Cytochrome c oxidase deficiency in subacute necrotizing encephalopathy (Leigh syndrome). J Inherit Metab Dis 12: 247-256.
2. Pequignot MO, Desguerre I, Dey R, et al (2001a) New splicing-site mutations in the SURF1 gene in Leigh syndrome patients. J Biol Chem 276: 15326-15329.
3. Pequignot MO, Dey R, Zeviani M, et al (2001b) Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency. Hum Mutat 17: 374-381.
4. Rahman S, Brown RM, Chong WK, Wilson CJ, Brown GK (2001) A SURF1 gene mutation presenting as isolated leukodystrophy. Ann Neurol 49: 797-800.
5. Thompson JR, Marcelino LA, Polz MF (2002) Heteroduplexes in mixed-template amplifications: formation, consequence and elimination by 'reconditioning PCR'. Nucleic Acids Res 30: 2083-2088.
6. Tiranti V, Hoertnagel K, Carrozzo R, et al (1998) Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 63: 1609-1621.
7. Tiranti V, Jaksch M, Hofmann S, et al (1999) Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. Ann Neurol 46: 161-166.
8. Zhu Z, Yao J, Johns, T, et al (1998) SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nature Genetics 20: 337-343.