|
1
|
Friedman RA, Bykhovskaya Y, Sue CM,
DiMauro S, Bradley R, Fallis-Cunningham R, Paradies N, Pensak ML,
Smith RJ, Groden J, et al: Maternally inherited nonsyndromic
hearing loss. Am J Med Genet. 84:369–372. 1999. View Article : Google Scholar
|
|
2
|
Lightowlers RN, Taylor RW and Turnbull DM:
Mutations causing mitochondrial disease: What is new and what
challenges remain? Science. 349:1494–1499. 2015. View Article : Google Scholar
|
|
3
|
Van Camp G and Smith RJ: Maternally
inherited hearing impairment. Clin Genet. 57:409–414. 2000.
View Article : Google Scholar
|
|
4
|
Nance WE: The genetics of deafness. Ment
Retard Dev Disabil Res Rev. 9:109–119. 2003. View Article : Google Scholar
|
|
5
|
Snoeckx RL, Huygen PL, Feldmann D, Marlin
S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski
R, Murgia A, et al: GJB2 mutations and degree of hearing loss: A
multicenter study. Am J Hum Genet. 77:945–957. 2005. View Article : Google Scholar :
|
|
6
|
Smith RJ, Bale JF Jr and White KR:
Sensorineural hearing loss in children. Lancet. 365:879–890. 2005.
View Article : Google Scholar
|
|
7
|
Hutchin TP, Thompson KR, Parker M, Newton
V, Bitner-Glindzicz M and Mueller RF: Prevalence of mitochondrial
DNA mutations in childhood/congenital onset non-syndromal
sensorineural hearing impairment. J Med Genet. 38:229–231. 2001.
View Article : Google Scholar :
|
|
8
|
Jacobs HT, Hutchin TP, Käppi T, Gillies G,
Minkkinen K, Walker J, Thompson K, Rovio AT, Carella M, Melchionda
S, et al: Mitochondrial DNA mutations in patients with postlingual,
nonsyndromic hearing impairment. Eur J Hum Genet. 13:26–33. 2005.
View Article : Google Scholar
|
|
9
|
Yelverton JC, Arnos K, Xia XJ, Nance WE,
Pandya A and Dodson KM: The clinical and audiologic features of
hearing loss due to mitochondrial mutations. Otolaryngol Head Neck
Surg. 148:1017–1022. 2013. View Article : Google Scholar
|
|
10
|
Iwanicka-Pronicka K, Pollak A, Skórka A,
Lechowicz U, Korniszewski L, Westfal P, Skarżyński H and Płoski R:
Audio profiles in mitochondrial deafness m.1555A>G and
m.3243A>G show distinct differences. Med Sci Monit. 21:694–700.
2015. View Article : Google Scholar :
|
|
11
|
Iwanicka-Pronicka K, Pollak A, Skórka A,
Lechowicz U, Pajdowska M, Furmanek M, Rzeski M, Korniszewski L,
Skarżyński H and Płoski R: Postlingual hearing loss as a
mitochondrial 3243A>G mutation phenotype. PLoS One.
7:e440542012. View Article : Google Scholar :
|
|
12
|
Guan MX: Molecular pathogenetic mechanism
of maternally inherited deafness. Ann N Y Acad Sci. 1011:259–271.
2004. View Article : Google Scholar
|
|
13
|
Kokotas H, Petersen MB and Willems PJ:
Mitochondrial deafness. Clin Genet. 71:379–391. 2007. View Article : Google Scholar
|
|
14
|
Cao L, Shitara H, Horii T, Nagao Y, Imai
H, Abe K, Hara T, Hayashi J and Yonekawa H: The mitochondrial
bottleneck occurs without reduction of mtDNA content in female
mouse germ cells. Nat Genet. 39:386–390. 2007. View Article : Google Scholar
|
|
15
|
Taylor RW and Turnbull DM: Mitochondrial
DNA mutations in human disease. Nat Rev Genet. 6:389–402. 2005.
View Article : Google Scholar :
|
|
16
|
Li X, Fischel-Ghodsian N, Schwartz F, Yan
Q, Friedman RA and Guan MX: Biochemical characterization of the
mitochondrial tRNASer (UCN) T7511C mutation associated with
nonsyndromic deafness. Nucleic Acids Res. 32:867–877. 2004.
View Article : Google Scholar :
|
|
17
|
Ishikawa K, Tamagawa Y, Takahashi K,
Kimura H, Kusakari J, Hara A and Ichimura K: Nonsyndromic hearing
loss caused by a mitochondrial T7511C mutation. Laryngoscope.
112:1494–1499. 2002. View Article : Google Scholar
|
|
18
|
Chapiro E, Feldmann D, Denoyelle F,
Sternberg D, Jardel C, Eliot MM, Bouccara D, Weil D, Garabédian EN,
Couderc R, 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. 10:851–856.
2002. View Article : Google Scholar
|
|
19
|
Tang X, Zheng J, Ying Z, Cai Z, Gao Y, He
Z, Yu H, Yao J, Yang Y, Wang H, et al: Mitochondrial tRNA
(Ser(UCN)) variants in 2651 han Chinese subjects with hearing loss.
Mitochondrion. 23:17–24. 2015. View Article : Google Scholar
|
|
20
|
Yamasoba T, Tsukuda K and Suzuki M:
Isolated hearing loss associated with T7511C mutation in
mitochondrial DNA. Acta Otolaryngol Suppl. 13–18. 2007. View Article : Google Scholar
|
|
21
|
Chen DY, Zhu WD, Chai YC, Chen Y, Sun L,
Yang T and Wu H: Mutation in PCDH15 may modify the phenotypic
expression of the 7511T>C mutation in MT-TS1 in a Chinese han
family with maternally inherited nonsyndromic hearing loss. Int J
Pediatr Otorhinolaryngol. 79:1654–1657. 2015. View Article : Google Scholar
|
|
22
|
Ishikawa K, Tamagawa Y, Takahashi K, Iino
Y, Murakami Y, Kakizaki K, Kimura H, Kusakari J, Hara A and
Ichimura K: Temporal bone histopathologic abnormalities associated
with mitochondrial mutation T7511C. Laryngoscope. 116:1982–1986.
2006. View Article : Google Scholar
|
|
23
|
Li R, Ishikawa K, Deng JH, Heman-Ackah S,
Tamagawa Y, Yang L, Bai Y, Ichimura K and Guan MX: Maternally
inherited nonsyndromic hearing loss is associated with the T7511C
mutation in the mitochondrial tRNASerUCN gene in a Japanese family.
Biochem Biophys Res Commun. 328:32–37. 2005. View Article : Google Scholar
|
|
24
|
Sue CM, Tanji K, Hadjigeorgiou G, Andreu
AL, Nishino I, Krishna S, Bruno C, Hirano M, Shanske S, Bonilla E,
et al: 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. 1999. View Article : Google Scholar
|
|
25
|
Hoefsloot LH, Roux AF and Bitner-Glindzicz
M: contributors to EMQN DFNB1 best practice meeting: EMQN best
practice guidelines for diagnostic testing of mutations causing
non-syndromic hearing impairment at the DFNB1 locus. Eur J Hum
Genet. 21:1325–1329. 2013. View Article : Google Scholar :
|
|
26
|
Ołdak M, Oziębło D, Pollak A, Stępniak I,
Lazniewski M, Lechowicz U, Kochanek K, Furmanek M, Tacikowska G,
Plewczynski D, et al: Novel neuro-audiological findings and further
evidence for TWNK involvement in perrault syndrome. J Transl Med.
15:252017. View Article : Google Scholar :
|
|
27
|
Lorens A, Polak M, Piotrowska A and
Skarzynski H: Outcomes of treatment of partial deafness with
cochlear implantation: A DUET study. Laryngoscope. 118:288–294.
2008. View Article : Google Scholar
|
|
28
|
Miller SA, Dykes DD and Polesky HF: A
simple salting out procedure for extracting DNA from human
nucleated cells. Nucleic Acids Res. 16:12151988. View Article : Google Scholar :
|
|
29
|
Koressaar T and Remm M: Enhancements and
modifications of primer design program primer3. Bioinforma.
23:1289–1291. 2007. View Article : Google Scholar
|
|
30
|
Untergasser A, Cutcutache I, Koressaar T,
Ye J, Faircloth BC, Remm M and Rozen SG: Primer3-new capabilities
and interfaces. Nucleic Acids Res. 40:e1152012. View Article : Google Scholar :
|
|
31
|
Li H and Durbin R: Fast and accurate short
read alignment with burrows-wheeler transform. Bioinforma.
25:1754–1760. 2009. View Article : Google Scholar
|
|
32
|
McKenna A, Hanna M, Banks E, Sivachenko A,
Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly
M and DePristo MA: The genome analysis toolkit: A MapReduce
framework for analyzing next-generation DNA sequencing data. Genome
Res. 20:1297–1303. 2010. View Article : Google Scholar :
|
|
33
|
Pollak A, Lechowicz U, Kędra A, Stawiński
P, Rydzanicz M, Furmanek M, Brzozowska M, Mrówka M, Skarżyński H,
Skarżyński PH, et al: Novel and de novo mutations extend
association of POU3F4 with distinct clinical and radiological
phenotype of hearing loss. PLoS One. 11:e01666182016. View Article : Google Scholar :
|
|
34
|
Lott MT, Leipzig JN, Derbeneva O, Xie HM,
Chalkia D, Sarmady M, Procaccio V and Wallace DC: mtDNA variation
and analysis using mitomap and mitomaster. Curr Protoc Bioinforma.
44:1–26. 2013.
|
|
35
|
Robinson JT, Thorvaldsdóttir H, Winckler
W, Guttman M, Lander ES, Getz G and Mesirov JP: Integrative
genomics viewer. Nat Biotechnol. 29:24–26. 2011. View Article : Google Scholar :
|
|
36
|
Ingman M and Gyllensten U: mtDB: Human
mitochondrial genome database, a resource for population genetics
and medical sciences. Nucleic Acids Res. 34:(Database Issue).
D749–D751. 2006. View Article : Google Scholar
|
|
37
|
Weissensteiner H, Pacher D,
Kloss-Brandstätter A, Forer L, Specht G, Bandelt HJ, Kronenberg F,
Salas A and Schönherr S: HaploGrep 2: Mitochondrial haplogroup
classification in the era of high-throughput sequencing. Nucleic
Acids Res. 44:W58–W63. 2016. View Article : Google Scholar :
|
|
38
|
van Oven M and Kayser M: Updated
comprehensive phylogenetic tree of global human mitochondrial DNA
variation. Hum Mutat. 30:E386–E394. 2009. View Article : Google Scholar
|
|
39
|
Free Statistics and Forecasting Software:
Spearman Rank Correlation. (v1.0.1). http://www.wessa.net/rwasp_spearman.wasp/June
1–2017
|
|
40
|
Skarzyński H, Lorens A and Piotrowska A: A
new method of partial deafness treatment. Med Sci Monit.
9:CS20–CS24. 2003.
|
|
41
|
Skarzynski H, Lorens A, Piotrowska A and
Skarzynski PH: Hearing preservation in partial deafness treatment.
Med Sci Monit. 16:CR555–CR562. 2010.
|
|
42
|
Skarzynski H, Lorens A, Dziendziel B and
Skarzynski PH: Expanding pediatric cochlear implant candidacy: A
case study of electro-natural stimulation (ENS) in partial deafness
treatment. Int J Pediatr Otorhinolaryngol. 79:1896–1900. 2015.
View Article : Google Scholar
|
|
43
|
Skarzynski H, van de Heyning P, Agrawal S,
Arauz SL, Atlas M, Baumgartner W, Caversaccio M, de Bodt M, Gavilan
J, Godey B, et al: Towards a consensus on a hearing preservation
classification system. Acta Otolaryngol Suppl. 3–13. 2013.
View Article : Google Scholar
|
|
44
|
Skarzynski H, Matusiak M, Lorens A,
Furmanek M, Pilka A and Skarzynski PH: Preservation of cochlear
structures and hearing when using the nucleus slim straight (CI422)
electrode in children. J Laryngol Otol. 130:332–339. 2016.
View Article : Google Scholar
|
|
45
|
Rydzanicz M, Cywińska K, Wróbel M, Pollak
A, Gawęcki W, Wojsyk-Banaszak I, Lechowicz U, Mueller-Malesińska M,
Ołdak M, Płoski R, et al: The contribution of the mitochondrial
COI/tRNA (Ser(UCN)) gene mutations to non-syndromic and
aminoglycoside-induced hearing loss in polish patients. Mol Genet
Metab. 104:153–159. 2011. View Article : Google Scholar
|
|
46
|
Prezant TR, Agapian JV, Bohlman MC, Bu X,
Oztas S, Qiu WQ, Arnos KS, Cortopassi GA, Jaber L, Rotter JI, et
al: Mitochondrial ribosomal RNA mutation associated with both
antibiotic-induced and non-syndromic deafness. Nat Genet.
4:289–294. 1993. View Article : Google Scholar
|
|
47
|
Skarzynski H, Lorens A, Zgoda M,
Piotrowska A, Skarzynski PH and Szkielkowska A: Atraumatic round
window deep insertion of cochlear electrodes. Acta Otolaryngol.
131:740–749. 2011. View Article : Google Scholar
|
|
48
|
De Seta D, Torres R, Russo FY, Ferrary E,
Kazmitcheff G, Heymann D, Amiaud J, Sterkers O, Bernardeschi D and
Nguyen Y: Damage to inner ear structure during cochlear
implantation: Correlation between insertion force and
radio-histological findings in temporal bone specimens. Hear Res.
344:90–97. 2017. View Article : Google Scholar
|
|
49
|
Gantz BJ, Dunn C, Walker E, Van Voorst T,
Gogel S and Hansen M: Outcomes of adolescents with a short
electrode cochlear implant with preserved residual hearing. Otol
Neurotol. 37:e118–e125. 2016. View Article : Google Scholar :
|
|
50
|
Nordfalk KF, Rasmussen K, Bunne M and
Jablonski GE: Deep round window insertion versus standard approach
in cochlear implant surgery. Eur Arch Otorhinolaryngol. 273:43–50.
2016. View Article : Google Scholar
|
|
51
|
Usami S, Miyagawa M, Nishio SY, Moteki H,
Takumi Y, Suzuki M, Kitano Y and Iwasaki S: Patients with CDH23
mutations and the 1555A>G mitochondrial mutation are good
candidates for electric acoustic stimulation (EAS). Acta
Otolaryngol. 132:377–384. 2012. View Article : Google Scholar :
|
|
52
|
Miyagawa M, Nishio SY and Usami S: A
comprehensive study on the etiology of patients receiving cochlear
implantation with special emphasis on genetic epidemiology. Otol
Neurotol. 37:e126–e134. 2016. View Article : Google Scholar :
|
