Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip

European Journal of Human Genetics

Volumn 15, Issue 11, 2007, Pages 1145-1155

  Lévêque, Marianne ^a   Marlin, Sandrine ^a,b   Jonard, Laurence ^a,b   Procaccio, Vincent ^c   Reynier, Pascal ^d   Amati Bonneau, Patrizia ^d   Baulande, Sylvain ^e   Pierron, Denis ^f   Lacombe, Didier ^f   Duriez, Françise ^f   Francannet, Christine ^g   Mom, Thierry ^h   Journel, Hubert ⁱ   Catros, Hélène ^j   Drouin Garraud, Valérie ^k   Obstoy, Marie Françoise ^k   Dollfus, Hélène ^l   Eliot, Marie Madeleine ^l   Faivre, Laurence ^m   Duvillard, Christian ^m   Couderc, Remy ^a,b   Garabedian, Eréa Noël ^b   Petit, Christine ^a   Feldmann, Delphine ^a,b   Denoyelle, Françoise ^a,b   more..

^a INSTITUT PASTEUR   (France)

^b ARMAND TROUSSEAU HOSPITAL   (France)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d Department of Biochemistry and Molecular Biology ^*  (France)

^e Parc Scientifique de Luminy   (France)

^f HÔPITAL PELLEGRIN   (France)

^g HÔTEL DIEU   (France)

^h UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

ⁱ Vannes Hospital   (France)

^j Auray Hospital   (France)

^k HÔPITAL CHARLES NICOLLE   (France)

^l HÔPITAL DE HAUTEPIERRE   (France)

^m DIJON UNIVERSITY HOSPITAL   (France)

more..

Author keywords

Maternal deafness; Microarray based DNA chip; Mitochondrial

Indexed keywords

LEUCINE; MITOCHONDRIAL DNA; RIBOSOME RNA; SERINE; TRANSFER RNA;

ARTICLE; CONTROLLED STUDY; DNA MICROARRAY; EXTRACHROMOSOMAL INHERITANCE; FAMILY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; GENOME; HUMAN; MAJOR CLINICAL STUDY; PERCEPTION DEAFNESS; PHYLOGENY; PRIORITY JOURNAL; SPECIES CONSERVATION;

ADULT; ANIMALS; CATTLE; CHILD; DNA, MITOCHONDRIAL; DOGS; ELECTROPHORESIS, GEL, TWO-DIMENSIONAL; FEMALE; GENOME, MITOCHONDRIAL; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MICE; MITOCHONDRIA; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; POINT MUTATION; RATS; SEQUENCE ANALYSIS, DNA;

EID: 35548963935     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201891     Document Type: Article

References (24)

1. Zhao H, Li R, Wang Q et al: Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am J Hum Genet 2004; 74: 139-152.
2. Prezant TR, Agapian JV, Bohlman MC et al: Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 1993; 4: 289-294.
3. Sue CM, Tanji K, Hadjigeorgiou G et al: Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. Neurology 1999; 52: 1905-1908.
4. Vernham GA, Reid FM, Rundle PA, Jacobs HT. Bilateral sensor-ineural hearing loss in members of a maternal lineage with mitochondrial point mutation. Clin Otolaryngol Allied Sci 1994; 19: 314-319.
5. Guan MX, Yan Q, Li X et al: Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. Am J Hum Genet 2006; 79: 291-302.
6. Bykhovskaya Y, Mengesha E, Wang D et al: Phenotype of nonsyndromic deafness associated with the mitochondrial AT555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3. Mol Genet Metab 2004; 83: 199-206.
7. de Vries D, de Wijs I, Ruitenbeek W et al: Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation. J Neurol Sci 1994; 124: 77-82.
8. Chapiro E, Feldmann D, Denoyelle F et al: Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: Evidence for a modulatory factor. Eur J Hum Genet 2002; 10: 851-856.
9. Maitra A, CoheA Y, Gillespie SE et al: The Human MitoChip: a high-throughput sequencing microarray for mitochondrial mutation detection. Genome Res 2004; 14: 812-819.
10. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N: Reanalysis and revision of the Cambridge reference sequence fox human mitochondrial DNA. Nat Genet 1999; 23: 147.
11. Finnila S, Lehtonen MS, Majamaa K: Phylogenetic network for European mtDNA. Am J Hum Genet 2001; 68: 1475-1484.
12. Ingman M, Gyllensten U: MtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences. Nucleic Acids Res 2006; 34: D749-D751.
13. Tanaka M, Takeyasu T, Fuku N, Li-Jun G, Kurata M: Mitochondrial genome single nucleotide polymorphisms and their phenotypes in the Japanese. Ann N Y Acad Sci 2004; 1011: 7-20.
14. Tanaka M, Cabrera VM, Gonzalez AM et al: Mitochondrial genome variation in eastern Asia and the peopling of Japan. Genome Res 2004; 14: 1832-1850.
15. Ruiz-Pesini E, Lott MT, Procaccio V et al: An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res 2007; 35: D823-D828.
16. Cardaioli E, Da Pozzo P, Cerase A et al: Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNA ser(UCN) gene. Neuromuscul Disord 2006; 16: 26-31.
17. Hutchin TP, Navarro-Coy NC, Van Camp G et al: Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction. Eur J Hum Genet 2001; 9: 385-387.
18. Yao YG, Salas A, Bravi CM, Bandelt HJ: A reappraisal of complete mtDNA variation in East Asian families with hearing impairment. Hum Genet 2006; 119: 505-515.
19. Estivill X, Govea. N, Barcelo E et al: Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet 1998; 62: 27-35.
20. Mitchell AL, Elson JL, Howell N. Taylor RW, Turnbull DM: Sequence variation in mitochondrial complex I genes: Mutation or polymorphism? J Med Genet 2006; 43: 175-179.
21. Dubot A, Godinot C, Dumur V et al: GUG is an efficient initiation codon to translate the human mitochondrial ATP6 gene. Biochem Biophys Res Commun 2004; 313: 687-693.
22. Saladino F. Virgilio R, Cifola I et al: Mitochondrial DNA microarray resequencing in Leber's hereditary optic neuropathy and other mitochondrial encephalomyopathies. Paper presented at: 16th Meeting of the European Neurological Society 2006, Lausanne.
23. Zhou S, Kassauei K, Cutler DJ et al: An oligonucleotide microarray for high-throughput sequencing of the mitochondrial genome. J Mol Diagn 2006; 8: 476-482.
24. Fischel-Ghodsian N, Kopke RD, Ge X: Mitochondrial dysfunction in hearing loss. Mitochondrion 2004; 4: 675-694.