Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation

Neuropediatrics

Volumn 37, Issue 2, 2006, Pages 88-94

  Van Riesen, Anne K J ^a   Antonicka, H ^b   Ohlenbusch, A ^a   Shoubridge, E A ^b   Wilichowski, E K G ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b MCGILL UNIVERSITY   (Canada)

Author keywords

COX; Cytochrome c oxidase deficiency; Leigh syndrome; Maternal segmental disomy; SURF1

Indexed keywords

ASCORBIC ACID; CREATINE; CREATININE; CYTOCHROME C OXIDASE; UBIDECARENONE;

ANAMNESIS; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BIOCHEMISTRY; CASE REPORT; CHROMOSOME 9; CHROMOSOME ARM; CLINICAL FEATURE; DISEASE SEVERITY; DISOMY; ENZYME DEFICIENCY; GENE; GENE MUTATION; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; KARYOTYPE; LABORATORY TEST; LEIGH DISEASE; MALE; MICROSATELLITE MARKER; MUSCLE BIOPSY; NEUROLOGIC EXAMINATION; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL DISABILITY; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SEGREGATION ANALYSIS; SPEECH DEVELOPMENT; SURF 1 GENE; UNIPARENTAL DISOMY;

CHILD, PRESCHOOL; CYTOCHROME-C OXIDASE DEFICIENCY; FEMALE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; LEIGH DISEASE; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS; PEDIGREE; PREGNANCY; PRENATAL DIAGNOSIS; PROTEINS; UNIPARENTAL DISOMY;

EID: 33745517589     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2006-924227     Document Type: Article

References (22)

1. Bjorck EJ, Anderlid BM, Blennow E. Maternal isodisomy of chromosome 9 with no impact on the phenotype in a woman with two isochromosomes: i(9 p) and i(9 q). Am J Med Genet 1999; 87: 49-52
2. Darin N, Moslemi AR, Lebon S, Rustin P, Holme E, Oldfors A et al. Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency. Neuropediatrics 2003; 34: 311-317
3. DiMauro S, Andreu AL, De Vivo DC. Mitochondrial disorders. J Child Neurol 2002; 17: 3S35-3S45
4. Farina L, Chiapparini L, Uziel G, Bugiani M, Zeviani M, Savoiardo M. MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations. Am J Neuroradiol 2002; 23: 1095-1100
5. Kotzot D. Complex and segmental uniparental disomy (UPD): Review and lessons from rare chromosomal complements. J Med Genet 2001; 38: 497-507
6. Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurochem 1951; 14: 216-221
7. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215
8. Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: 185620; last edited 2/22/2005. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/
9. Pitkanen S, Raha S, Robinson BH. Diagnosis of complex I deficiency in patients with lactic acidemia using skin fibroblast cultures. Biochem Mol Med 1996; 59: 134-137
10. Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW et al. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 1996; 39: 343-351
11. Salviati L, Freehauf C, Sacconi S, DiMauro S, Thoma J, Tsai AC. Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh syndrome. Am J Med Genet 2004; 128: 195-198
12. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning: a laboratory manual. Plainview, NY: Cold Spring Harbor Laboratory Press, 1989
13. Shoubridge EA. Cytochrome c oxidase deficiency. Am J Med Genet 2001; 106: 46-52
14. Slater HR, Ralph A, Daniel A, Worthington S, Roberts C. A case of maternal uniparental disomy of chromosome 9 diagnosed prenatally and the related problem of residual trisomy. Prenat Diagn 2000; 20: 930-932
15. Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M et al. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 1998; 63: 1609-1621
16. Tiranti V, Galimberti C, Nijtmans L, Bovolenta S, Perini MP, Zeviani M. Characterization of SURF-1 expression and Surf-1 p function in normal and disease conditions. Hum Mol Genet 1999; 8: 2533-2540
17. Tiranti V, Jaksch M, Hofmann S, Galimberti C, Hoertnagel K, Lulli L et al. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. Ann Neurol 1999; 46: 161-166
18. Tiranti V, Lamantea E, Uziel G, Zeviani M, Gasparini P, Marzella R et al. Leigh syndrome transmitted by uniparental disomy of chromosome 9. J Med Genet 1999; 36: 927-928
19. van Erven PM, Cillessen JP, Eekhoff EM, Gabreels FJ, Doesburg WH, Lemmens WA et al. Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature. Clin Neurol Neurosurg 1987; 89: 217-230
20. Willis TA, Davidson J, Gray RGF, Poulton K, Ramani P, Whitehouse W. Cytochrome oxidase deficiency presenting as birth asphyxia. Dev Med Child Neurol 2000; 42: 414-417
21. Yao J and Shoubridge EA. Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency. Hum Mol Genet 1999; 8: 2541-2549
22. Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C et al. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet 1998; 20: 337-343