Journal List > Hanyang Med Rev > v.35(2) > 1044253

Kim and Choi: Etiology of Hearing Loss and Genetic Hearing Loss

Abstract

Hearing loss is one of the most common sensory disorders and has numerous environmental and genetic factors that influence its onset and development. Hearing loss can be classified by either the affected anatomic or functional lesion of hearing loss, or as conductive or sensorineural hearing loss (SNHL). Genetic factors account for about 50% of congenital SNHL, and are therefore the most common cause. Molecular genetics research has identified more than 100 genes related to hearing and hearing loss, and shown that the risk of hearing loss caused by non-genetic factor is modified by genetic susceptibility. About 30% of genetic hearing loss is syndromic related and has affected phenotypic markers in other organs that make it easier to correctly diagnose the etiology of the hearing loss. In some cases, hearing loss can precede the pathologies of other organs and in these cases, hearing loss acts as a predictor of the syndrome associated pathologies of other organs. Inheritance of nonsyndromic hearing loss follows common inheritance patterns such as autosomal dominant, autosomal recessive, sex chromosome related, and mitochondrial inheritances. The paucity of predominant phenotypes and ethnic specificity of the prevalence and types of mutations may hinder the genetic diagnosis in nonsyndromic hearing loss. However, progress in elucidating the causal mutations is going forward using stratified genetic diagnostic strategies of candidate genes identified by hearing phenotypes and patterns of inheritance.

References

1. Marazita ML, Ploughman LM, Rawlings B, Remington E, Arnos KS, Nance WE. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet. 1993; 46:486–491.
crossref
2. Morton NE. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci. 1991; 630:16–31.
crossref
3. Casano RA, Bykhovskaya Y, Johnson DF, Hamon M, Torricelli F, Bigozzi M, et al. Hearing loss due to the mitochondrial A1555G mutation in Italian families. Am J Med Genet. 1998; 79:388–391.
crossref
4. Estivill X, Govea N, Barcelo E, Badenas C, Romero E, Moral L, et al. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet. 1998; 62:27–35.
crossref
5. Huang Q, Tang J. Age-related hearing loss or presbycusis. Eur Arch Otorhinolaryngol. 2010; 267:1179–1191.
crossref
6. Sliwinska-Kowalska M, Pawelczyk M. Contribution of genetic factors to noise-induced hearing loss: a human studies review. Mutat Res. 2013; 752:61–65.
crossref
7. Muse C, Harrison J, Yoshinaga-Itano C, Grimes A, Brookhouser PE, Epstein S, et al. Supplement to the JCIH 2007 position statement: principles and guidelines for early intervention after confirmation that a child is deaf or hard of hearing. Pediatrics. 2013; 131:e1324–e1349.
8. Nance WE. The genetics of deafness. Ment Retard Dev Disabil Res Rev. 2003; 9:109–119.
crossref
9. Hereditary Hearing Loss Homepage [Internet]. Nonsyndromic Genes. c2014. cited 2014 May 19. Available from: http://hereditaryhearingloss.org/main.aspx?c=.HHH&n=86163/.
10. Song MH, Lee KY, Choi JY, Bok J, Kim UK. Nonsyndromic X-linked hearing loss. Front Biosci (Elite Ed). 2012; 4:924–933.
11. Hereditary Hearing Loss Homepage [Internet]. Syndromic. c2014. cited 2014 May 19. Available from: http://hereditaryhearingloss.org/main.aspx?c=.HHH&n=86523/.
12. Tedeschi AS, Roizen NJ, Taylor HG, Murray G, Curtis CA, Parikh AS. The prevalence of congenital hearing loss in neonates with Down syndrome. J Pediatr. 2015; 166:168–171.
13. Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, et al. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet. 2001; 68:26–37.
crossref
14. Schultz JM, Bhatti R, Madeo AC, Turriff A, Muskett JA, Zalewski CK, et al. Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. J Med Genet. 2011; 48:767–775.
crossref
15. Pavithra A, Selvakumari M, Nityaa V, Sharanya N, Ramakrishnan R, Narasimhan M, et al. Autosomal dominant hearing loss resulting from p.R75Q mutation in the GJB2 gene: nonsyndromic presentation in a South Indian family. Ann Hum Genet. 2015; 79:76–82.
crossref
16. Choi BY, Kim J, Chung J, Kim AR, Mun SJ, Kang SI, et al. Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA. PLoS One. 2014; 9:e97040.
crossref
17. Park G, Gim J, Kim AR, Han KH, Kim HS, Oh SH, et al. Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family. BMC Genomics. 2013; 14:191.
crossref
18. Debrus S, Tuffery S, Matsuoka R, Galal O, Sarda P, Sauer U, et al. Lack of evidence for connexin 43 gene mutations in human autosomal recessive lateralization defects. J Mol Cell Cardiol. 1997; 29:1423–1431.
crossref
19. Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet. 1997; 6:2173–2177.
crossref
20. Hayashi C, Funayama M, Li Y, Kamiya K, Kawano A, Suzuki M, et al. Prevalence of GJB2 causing recessive profound non-syndromic deafness in Japanese children. Int J Pediatr Otorhinolaryngol. 2011; 75:211–214.
crossref
21. Kim SY, Park G, Han KH, Kim A, Koo JW, Chang SO, et al. Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity. PLoS One. 2013; 8:e61592.
crossref
22. Tsukada K, Nishio S, Usami S. Deafness Gene Study Consortium. A large cohort study of GJB2 mutations in Japanese hearing loss patients. Clin Genet. 2010; 78:464–470.
23. Choi BY, Ahmed ZM, Riazuddin S, Bhinder MA, Shahzad M, Husnain T, et al. Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan. Clin Genet. 2009; 75:237–243.
crossref
24. Park HJ, Hahn SH, Chun YM, Park K, Kim HN. Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope. 2000; 110:1535–1538.
crossref
25. Park HJ, Lee SJ, Jin HS, Lee JO, Go SH, Jang HS, et al. Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. Clin Genet. 2005; 67:160–165.
crossref
26. The Connexin-deafness homepage. [Internet]. Mutations in GJB2 in patients with non-syndromic deafness. Barcelona (Spain): c2015. cited 2015 April 28. Available from: http://davinci.crg.es/deafness/index.php?seccion=mut_db&db=nonsynd&nonsynd=cx26mut/.
27. Li L, Lu J, Tao Z, Huang Q, Chai Y, Li X, et al. The p.V37I exclusive genotype of GJB2: a genetic risk-indicator of postnatal permanent childhood hearing impairment. PLoS One. 2012; 7:e36621.
crossref
28. Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S, Kittles R, et al. Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? Hum Mutat. 2009; 30:599–608.
crossref
29. Pryor SP, Madeo AC, Reynolds JC, Sarlis NJ, Arnos KS, Nance WE, et al. SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet. 2005; 42:159–165.
crossref
30. Choi BY, Madeo AC, King KA, Zalewski CK, Pryor SP, Muskett JA, et al. Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. J Med Genet. 2009; 46:856–861.
crossref
31. Jang JH, Jung J, Kim AR, Cho YM, Kim MY, Lee SY, et al. Identification of novel functional null allele of SLC26A4 associated with enlarged vestibular aqueduct and its possible implication. Audiol Neurootol. 2014; 19:319–326.
crossref
32. Choi BY, Park G, Gim J, Kim AR, Kim BJ, Kim HS, et al. Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss. PLoS One. 2013; 8:e68692.
crossref
33. Park JH, Kim NK, Kim AR, Rhee J, Oh SH, Koo JW, et al. Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication. Orphanet J Rare Dis. 2014; 9:167.
crossref
34. Choi BY, Ahmed ZM, Riazuddin S, Bhinder MA, Shahzad M, Husnain T, et al. Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan. Clin Genet. 2009; 75:237–243.
crossref
35. Choi JW, Min B, Kim A, Koo JW, Kim CS, Park WY, et al. De novo large genomic deletions involving POU3F4 in incomplete partition type III inner ear anomaly in East Asian populations and implications for genetic counseling. Otol Neurotol. 2015; 36:184–190.
crossref
36. Weegerink NJ, Schraders M, Oostrik J, Huygen PL, Strom TM, Granneman S, et al. Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations. J Assoc Res Otolaryngol. 2011; 12:753–766.
crossref
37. Lee YJ, Park D, Kim SY, Park WJ. Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3. J Med Genet. 2003; 40:629–631.
crossref
38. Cho SW, Kang SI, Park SJ, Kim AR, Koo JW, Kim CS, et al. Clinical characteristics of patients with narrow bony cochlear nerve canal: is the bilateral case just a duplicate of the unilateral case. Laryngoscope. 2013; 123:1996–2000.
crossref
TOOLS
ORCID iDs

Byung Yoon Choi
https://orcid.org/http://orcid.org/0000-0001-5125-2118

Similar articles