Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutation

Article English OPEN
Mutai, Hideki; Kouike, Hiroko; Teruya, Eiko; Takahashi-Kodomari, Ikuko; Kakishima, Hiroki; Taiji, Hidenobu; Usami, Shin-ichi; Okuyama, Torayuki; Matsunaga, Tatsuo;
(2011)

<p>Abstract</p> <p>Background</p> <p>Variants of mitochondrial DNA (mtDNA) have been evaluated for their association with hearing loss. Although ethnic background affects the spectrum of mtDNA variants, systematic mutational analysis of mtDNA in Japanese patients with h... View more
  • References (63)
    63 references, page 1 of 7

    1. Morton CC, Nance WE: Newborn hearing screening-a silent revolution. N Engl J Med 2006, 354:2151-2164.

    2. Kral A, O'Donoghue GM: Profound deafness in childhood. N Engl J Med 2010, 363:1438-1450.

    3. Sakihara Y, Christensen B, Parving A: Prevalence of hereditary hearing impairment in adults. Scand Audiol 1999, 28:39-46.

    4. Kokotas H, Petersen MB, Willems PJ: Mitochondrial deafness. Clin Genet 2007, 71:379-391.

    5. del Castillo FJ, Rodriguez-Ballesteros M, Martin Y, Arellano B, Gallo-Teran J, Morales-Angulo C, Ramirez-Camacho R, Cruz Tapia M, Solanellas J, MartinezConde A, et al: Heteroplasmy for the 1555A > G mutation in the mitochondrial 12S rRNA gene in six Spanish families with nonsyndromic hearing loss. J Med Genet 2003, 40:632-636.

    6. Chen J, Yang L, Yang A, Zhu Y, Zhao J, Sun D, Tao Z, Tang X, Wang J, Wang X, et al: Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees. Gene 2007, 401:4-11.

    7. Zhao H, Li R, Wang Q, Yan Q, Deng JH, Han D, Bai Y, Young WY, Guan MX: 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.

    8. Chinnery PF, Elliott C, Green GR, Rees A, Coulthard A, Turnbull DM, Griffiths TD: The spectrum of hearing loss due to mitochondrial DNA defects. Brain 2000, 123(Pt 1):82-92.

    9. Deschauer M, Muller T, Wieser T, Schulte-Mattler W, Kornhuber M, Zierz S: Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation. Arch Neurol 2001, 58:1885-1888.

    10. van den Ouweland JM, Lemkes HH, Ruitenbeek W, Sandkuijl LA, de Vijlder MF, Struyvenberg PA, van de Kamp JJ, Maassen JA: Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1992, 1:368-371.

  • Related Research Results (1)
  • Similar Research Results (2)
  • Related Organizations (1)
  • Metrics
Share - Bookmark