Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans

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• 作者：Nari Ryu ; Borum Sagong ; Hong-Joon Park ; Min-A Kim ; Kyu-Yup Lee…
• 关键词：DFNA25 ; SLC17A8 ; VGLUT3 ; Autosomal dominant non ; syndromic hearing loss ; Mutation
• 刊名：BMC Medical Genetics
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：17
• 期：1
• 全文大小：1,743 KB
• 参考文献：1.Morton NE. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci. 1991;630:16–31.CrossRef PubMed
  2.Morton CC, Nance WE. Newborn hearing screening--a silent revolution. N Engl J Med. 2006;354(20):2151–64.CrossRef PubMed
  3.Morton CC. Genetics, genomics and gene discovery in the auditory system. Hum Mol Genet. 2002;11(10):1229–40.CrossRef PubMed
  4.Smith RJ, Bale Jr JF, White KR. Sensorineural hearing loss in children. Lancet. 2005;365(9462):879–90.CrossRef PubMed
  5.Parker MA. Biotechnology in the treatment of sensorineural hearing loss: foundations and future of hair cell regeneration. J Speech Lang Hear Res. 2011;54(6):1709–31.PubMedCentral CrossRef PubMed
  6.Nakagawa T. Strategies for developing novel therapeutics for sensorineural hearing loss. Front Pharmacol. 2014;5:206.PubMedCentral CrossRef PubMed
  7.ACMG. Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement. Genet Med. 2002;4(3):162–71.CrossRef
  8.Mahboubi H, Dwabe S, Fradkin M, Kimonis V, Djalilian HR. Genetics of hearing loss: where are we standing now? Eur Arch Otorhinolaryngol. 2012;269(7):1733–45.CrossRef PubMed
  9.Thirlwall AS, Brown DJ, McMillan PM, Barker SE, Lesperance MM. Phenotypic characterization of hereditary hearing impairment linked to DFNA25. Arch Otolaryngol Head Neck Surg. 2003;129(8):830–5.CrossRef PubMed
  10.Park MK, Sagong B, Lee JD, Bae SH, Lee B, Choi KS, et al. A1555G homoplasmic mutation from A1555G heteroplasmic mother with Pendred syndrome. Int J Pediatr Otorhinolaryngol. 2014;78(11):1996–9.CrossRef PubMed
  11.Greene CC, McMillan PM, Barker SE, Kurnool P, Lomax MI, Burmeister M, et al. DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24. Am J Hum Genet. 2001;68(1):254–60.PubMedCentral CrossRef PubMed
  12.Van Camp G, Willems PJ, Smith RJ. Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet. 1997;60(4):758–64.PubMedCentral PubMed
  13.Ruel J, Emery S, Nouvian R, Bersot T, Amilhon B, Van Rybroek JM, et al. Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. Am J Hum Genet. 2008;83(2):278–92.PubMedCentral CrossRef PubMed
  14.Fremeau Jr RT, Burman J, Qureshi T, Tran CH, Proctor J, Johnson J, et al. The identification of vesicular glutamate transporter 3 suggests novel modes of signaling by glutamate. Proc Natl Acad Sci U S A. 2002;99(22):14488–93.PubMedCentral CrossRef PubMed
  15.Almqvist J, Huang Y, Laaksonen A, Wang DN, Hovmoller S. Docking and homology modeling explain inhibition of the human vesicular glutamate transporters. Protein Sci. 2007;16(9):1819–29.PubMedCentral CrossRef PubMed
  16.Pao SS, Paulsen IT, Saier Jr MH. Major facilitator superfamily. Microbiol Mol Biol Rev. 1998;62(1):1–34.PubMedCentral PubMed
  17.Seal RP, Akil O, Yi E, Weber CM, Grant L, Yoo J, et al. Sensorineural deafness and seizures in mice lacking vesicular glutamate transporter 3. Neuron. 2008;57(2):263–75.PubMedCentral CrossRef PubMed
  18.Dror AA, Avraham KB. Hearing impairment: a panoply of genes and functions. Neuron. 2010;68(2):293–308.CrossRef PubMed
  19.Stelma F, Bhutta MF. Non-syndromic hereditary sensorineural hearing loss: review of the genes involved. J Laryngol Otol. 2014;128(1):13–21.CrossRef PubMed
  20.Takamori S, Malherbe P, Broger C, Jahn R. Molecular cloning and functional characterization of human vesicular glutamate transporter 3. EMBO Rep. 2002;3(8):798–803.PubMedCentral CrossRef PubMed
  21.Kim MA, Kim YR, Sagong B, Cho HJ, Bae JW, Kim J, et al. Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss. PLoS One. 2014;9(4):e95646.PubMedCentral CrossRef PubMed
  22.Kim YR, Kim MA, Sagong B, Bae SH, Lee HJ, Kim HJ, et al. Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss. PLoS One. 2015;10(3):e0119443.PubMedCentral CrossRef PubMed
  23.Lee KY, Choi SY, Bae JW, Kim S, Chung KW, Drayna D, et al. Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients. Int J Pediatr Otorhinolaryngol. 2008;72(9):1301–9.PubMedCentral CrossRef PubMed
  
• 作者单位：Nari Ryu (1)
  Borum Sagong (1)
  Hong-Joon Park (2)
  Min-A Kim (1) (3)
  Kyu-Yup Lee (4)
  Jae Young Choi (5)
  Un-Kyung Kim (1) (3)
  
  1. Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, 41566, South Korea
  2. Soree Ear Clinics, Seoul, 06068, South Korea
  3. School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu, 41566, South Korea
  4. Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine, Kyungpook National University, Daegu, 41944, South Korea
  5. Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul, 03722, South Korea
  
• 刊物主题：Human Genetics; Genetics and Population Dynamics;
• 出版者：BioMed Central
• ISSN：1471-2350

文摘

Background One of the causes of sensorineural hearing loss (SNHL) is degeneration of the inner hair cells in the organ of Corti in the cochlea. The SLC17A8 (solute carrier family 17, member 8) gene encodes vesicular glutamate transporter 3 (VGLUT3), and among its isoforms (VGLUT1-3), only VGLUT3 is expressed selectively in the inner hair cells (IHCs). VGLUT3 transports the neurotransmitter glutamate into the synaptic vesicles of the IHCs. Mutation of the SLC17A8 gene is reported to be associated with DFNA25 (deafness, autosomal dominant 25), an autosomal dominant non-syndromic hearing loss (ADNSHL) in humans.