Display options
Cite
Guillen-Ahlers H, Erbe CB, Chevalier FD, et al. TMTC2 variant associated with sensorineural hearing loss and auditory neuropathy spectrum disorder in a family dyad. Mol Genet Genomic Med. 2018;doi: 10.1002/mgg3.397.
Guillen-Ahlers, H., Erbe, C. B., Chevalier, F. D., Montoya, M. J., Zimmerman, K. D., Langefeld, C. D., Olivier, M., & Runge, C. L. (2018). TMTC2 variant associated with sensorineural hearing loss and auditory neuropathy spectrum disorder in a family dyad. Molecular genetics & genomic medicine, . https://doi.org/10.1002/mgg3.397
Guillen-Ahlers, Hector, et al. "TMTC2 variant associated with sensorineural hearing loss and auditory neuropathy spectrum disorder in a family dyad." Molecular genetics & genomic medicine vol. (2018). doi: https://doi.org/10.1002/mgg3.397
Guillen-Ahlers H, Erbe CB, Chevalier FD, Montoya MJ, Zimmerman KD, Langefeld CD, Olivier M, Runge CL. TMTC2 variant associated with sensorineural hearing loss and auditory neuropathy spectrum disorder in a family dyad. Mol Genet Genomic Med. 2018 Apr 19; doi: 10.1002/mgg3.397. Epub 2018 Apr 19. PMID: 29671961; PMCID: PMC6081214.
Copy Download .nbib Format: NLM
Share it on

Mol Genet Genomic Med. 2018 Apr 19; doi: 10.1002/mgg3.397. Epub 2018 Apr 19.

TMTC2 variant associated with sensorineural hearing loss and auditory neuropathy spectrum disorder in a family dyad.

Molecular genetics & genomic medicine

Hector Guillen-Ahlers, Christy B Erbe, Frédéric D Chevalier, Maria J Montoya, Kip D Zimmerman, Carl D Langefeld, Michael Olivier, Christina L Runge

Affiliations

  1. Department of Genetics, Texas Biomedical Research Institute, San Antonio, TX, USA.
  2. Department of Otolaryngology and Communication Sciences, Medical College of Wisconsin, Milwaukee, WI, USA.
  3. Department of Biostatistical Sciences, Wake Forest University School of Medicine, Winston-Salem, NC, USA.

PMID: 29671961 PMCID: PMC6081214 DOI: 10.1002/mgg3.397

Abstract

BACKGROUND: Sensorineural hearing loss (SNHL) is a common form of hearing loss that can be inherited or triggered by environmental insults; auditory neuropathy spectrum disorder (ANSD) is a SNHL subtype with unique diagnostic criteria. The genetic factors associated with these impairments are vast and diverse, but causal genetic factors are rarely characterized.

METHODS: A family dyad, both cochlear implant recipients, presented with a hearing history of bilateral, progressive SNHL, and ANSD. Whole-exome sequencing was performed to identify coding sequence variants shared by both family members, and screened against genes relevant to hearing loss and variants known to be associated with SNHL and ANSD.

RESULTS: Both family members are successful cochlear implant users, demonstrating effective auditory nerve stimulation with their devices. Genetic analyses revealed a mutation (rs35725509) in the TMTC2 gene, which has been reported previously as a likely genetic cause of SNHL in another family of Northern European descent.

CONCLUSION: This study represents the first confirmation of the rs35725509 variant in an independent family as a likely cause for the complex hearing loss phenotype (SNHL and ANSD) observed in this family dyad.

© 2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

Keywords: TMTC2; auditory neuropathy spectrum disorder; cochlear implant; genetics; sensorineural hearing loss

References

  1. J Speech Hear Disord. 1962 Feb;27:62-70 - PubMed
  2. Int J Audiol. 2004 Dec;43 Suppl 1:S22-7 - PubMed
  3. J Med Genet. 2004 Nov;41(11):872-6 - PubMed
  4. Genome Res. 2010 Sep;20(9):1297-303 - PubMed
  5. J Am Acad Audiol. 2003 May-Jun;14(4):188-201 - PubMed
  6. J Biol Chem. 2014 Jun 6;289(23):16085-99 - PubMed
  7. Bioinformatics. 2012 Feb 1;28(3):423-5 - PubMed
  8. Audiol Neurootol. 2017;22(1):30-40 - PubMed
  9. J Acoust Soc Am. 1994 Feb;95(2):1085-99 - PubMed
  10. Nat Genet. 1999 Apr;21(4):363-9 - PubMed
  11. Am J Hum Genet. 2007 Jun;80(6):1076-89 - PubMed
  12. Bioinformatics. 2010 Mar 15;26(6):841-2 - PubMed
  13. JAMA Otolaryngol Head Neck Surg. 2016 Sep 1;142(9):866-72 - PubMed
  14. Nucleic Acids Res. 2013 Jan;41(Database issue):D561-5 - PubMed
  15. Ann N Y Acad Sci. 1991;630:16-31 - PubMed
  16. PLoS One. 2012;7(1):e29150 - PubMed
  17. Bioinformatics. 2010 Mar 1;26(5):589-95 - PubMed
  18. Ear Hear. 2012 Jan-Feb;33(1):112-7 - PubMed
  19. Cochlear Implants Int. 2013 Nov;14(5):287-90 - PubMed
  20. Mol Genet Genomic Med. 2018 Apr 19;: - PubMed
  21. Nucleic Acids Res. 2010 Sep;38(16):e164 - PubMed
  22. Ear Hear. 2004 Aug;25(4):375-87 - PubMed
  23. JAMA. 2013 Nov 27;310(20):2191-4 - PubMed
  24. J Am Acad Audiol. 2011 Oct;22(9):567-577 - PubMed
  25. J Hum Genet. 2008;53(2):101-105 - PubMed
  26. Hear Res. 2012 Oct;292(1-2):51-8 - PubMed
  27. Proc Natl Acad Sci U S A. 2010 Jul 27;107(30):13396-401 - PubMed
  28. Ear Hear. 2007 Aug;28(4):558-70 - PubMed
  29. Int J Audiol. 2010 Jan;49(1):30-43 - PubMed
  30. J Am Acad Audiol. 2012 Jan;23(1):5-17 - PubMed
  31. Nat Genet. 2006 Jul;38(7):770-8 - PubMed
  32. Bioinformatics. 2009 Aug 15;25(16):2078-9 - PubMed
  33. Otol Neurotol. 2008 Jun;29(4):561-6 - PubMed
  34. Laryngoscope. 1999 Feb;109(2 Pt 1):181-5 - PubMed

Publication Types