516
Views
1
CrossRef citations to date
0
Altmetric
Mitogenome Announcement

The mitochondrial tRNAThr G15930A may be a novel mutation associated with hearing impairment

, , , &
Pages 1347-1349 | Received 13 Nov 2018, Accepted 17 Mar 2019, Published online: 02 Apr 2019

References

  • Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. 1999. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet. 23:147.
  • Ding Y, Leng J. 2012. Is mitochondrial tRNA Leu(UUR) 3291T > C mutation pathogenic? Mitochondrial DNA. 23:323–326.
  • Ding Y, Li Y, You J, Yang L, Chen B, Lu J, Guan MX. 2009. Mitochondrial tRNA(Glu) A14693G variant may modulate the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in a Han Chinese family. J Genet Genomics. 36:241–250.
  • Ding Y, Xia BH, Zhang CJ, Zhuo GC. 2017. Mutations in mitochondrial tRNA genes may be related to insulin resistance in women with polycystic ovary syndrome. Am J Transl Res. 9:2984–2996.
  • Ding Y, Xia BH, Zhang CJ, Zhuo GC. 2018. Mitochondrial tRNALeu(UUR) C3275T, tRNAGln T4363C and tRNALys A8343G mutations may be associated with PCOS and metabolic syndrome. Gene. 642:299–306.
  • Dragomir C, Stan A, Stefanescu DT, Savu L, Severin E. 2011. Prenatal screening for the 35delG GJB2, del (GJB6-D13S1830), and del (GJB6-D13S1854) mutations in the Romanian population. Genet Test Mol Biomarkers. 15:749–753.
  • Fischel-Ghodsian N. 1999. Mitochondrial deafness mutations reviewed. Hum Mutat. 13:261–270.
  • Prezant TR, Agapian JV, Bohlman MC, Bu X, Oztas S, Qiu WQ, Arnos KS, Cortopassi GA, Jaber L, Rotter JI. 1993. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet. 4:289–294.
  • Salinas-Giegé T, Giegé R, Giegé P. 2015. tRNA biology in mitochondria. Int J Mol Sci. 16:4518–4559.
  • Sue CM, Tanji K, Hadjigeorgiou G, Andreu AL, Nishino I, Krishna S, Bruno C, Hirano M, Shanske S, Bonilla E, et al. 1999. Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. Neurology. 52:1905–1908.
  • Zhao H, Li R, Wang Q, Yan Q, Deng JH, Han D, Bai Y, Young WY, Guan MX. 2004. 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. 74:139–152.
  • Zheng J, Ji Y, Guan MX. 2012. Mitochondrial tRNA mutations associated with deafness. Mitochondrion. 12:406–413.