Impact of socio-demographic structure of the deaf people communities in prevalence of hereditary hearing loss

Hearing loss caused by environmental or genetic factors concerns more than 10 % of the world population. It leads to disability and considerably reduces the life quality of deaf people. On average, 1 in 1,000 newborns are born deaf, and 50-60 % of cases are due to genetic causes. Nonsyndromic hereditary deafness is a monogenic disease with uniquely high genetic heterogeneity. The prevalence of some forms of genetic deafness varies in different populations and could be determined, as for many other genetic diseases, by the ethnic composition of a population, isolation, founder and «bottleneck» effects, the proportion of consanguineous marriages, and probable heterozygote advantage. It is assumed that high prevalence of hearing loss due to mutations in the GJB2 (Cx26) gene was also influenced by some social factors: a long-standing tradition of assortative marriages between deaf people, combined with growth of their social adaptation and genetic fitness. The start for these events was the breakdown of the deep social isolation of deaf people, which occurred about 300 years ago in Europe, and later in the US, when special schools for the deaf with learning sign language as a common tool for communication were established (linguistic homogamy). Computer simulations and comparative retrospective study showed that over the past 200 years these social processes can have doubled the frequency of deafness in the US caused by the GJB2 gene mutations. Information about the sociodemographic structure of deaf communities in the past is extremely limited by an almost complete lack of relevant archival data. Nevertheless, studies of sociodemographic and medical-genetic characteristics of deaf people’s contemporary communities are important for predicting the prevalence of inherited forms of deafness, as well as for understanding the impact of social factors on the evolutionary processes occurring in human populations.

1. Sirmaci A. A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia. Clin. Genet. 2009;75(6):562-567. DOI 10.1111/j.1399- 0004.2009.01183.x

2. Andersson Y. Sociological implications of genetic deafness. Am. J. Hum. Genet. Suppl. 1991;49:5.

3. Arnos K.S., Israel J., Cunningham M. Genetic counselling for the deaf: medical and cultural considerations. Ann. N. Y. Acad. Sci. 1991;630:212-222. DOI 10.1111/j.1749-6632.1991.tb19590.x

4. Sirmaci A., Edwards Y.J., Akay H., Tekin M. Challenges in whole exome sequencing: an example from hereditary deafness. PLoS One. 2012;7(2):e32000. DOI 10.1371/journal.pone.0032000

5. Arnos K.S., Welch K.O., Tekin M., Norris V.W., Blanton S.H., Pandya A., Nance W.E. A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart. Am. J. Hum. Genet. 2008;83(2):200-207. DOI 10.1016/j.ajhg.2008.07.001

6. Stenson P.D., Mort M., Ball E.V., Shaw K., Phillips A., Cooper D.N. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum. Genet. 2014;133(1):1-9. DOI 10.1007/s00439-013-1358-4

7. Stern S.J., Arnos K.S., Murrelle L., Welch K.O., Nance W.E., Pandya A. Attitudes of Deaf and hard of hearing subjects toward genetic testing and prenatal diagnosis of hearing loss. J. Med. Genet. 2002;39:449- 453. DOI 10.1136/jmg.39.6.449

8. Ayton G.S., Noid W.G., Voth G.A. Multiscale modeling of biomolecular systems: in serial and in parallel. Curr. Opin. in Struc. Biol. 2007; 17(2):192-198. DOI10.1016/j.sbi.2007.03.004

9. Bady-Khoo M.S., Bondar A.A., Morozov I.V., Zytsar M.V., Mikhalskaya V.Yu. Skidanova O.V., Barashkov N.A., Mongush R.Sh., Omzar O.S., Tukar V.M., Posukh O.L. Study of hereditary forms of hearing loss in the Republic of Tuva. II. Evaluation of the mutational spectrum of the GJB2 (Cx26) gene and its contribution to the etiology of hearing loss. Meditsinskaya Genetika = Medical Genetics (Moscow). 2014a;13(11):30- 40.

10. Tarskaia L.A., Zinchenko R.A., Elchinova G.I., Egorova A.G., Korotov M.N., Basova E.V., Prokopeva A.M., Sivtseva E.N., Nikolaeva E.E., Banshchinkova E.S., Samarkina M.V., Sannikova A.N., Danilova G.I., Zhelobtsova A.F., Danilova A.P., Popova G.N. The structure and diversiity of hereditary pathology in Sakha Republic (Yakutia). Genetika = Genetics (Moscow). 2004;40(11):1530-1539.

11. Bady-Khoo M.S., Posukh O.L., Zorkoltseva I.V., Skidanova O.V., Barashkov N.A., Omzar O.S., Mongush R.Sh., Bamba O.M., Tukar V.M., Zytsar M.V., Mikhalskaya V.Yu. Study of hereditary hearing loss in the Republic of Tuva. I. Epidemiology of hearing impairments in the Republic of Tuva. Meditsinskaya Genetika = Medical Genetics (Moscow). 2014b;13(1):17-26.

12. Tekin M., Arici Z.S. Genetic epidemiological studies of congenital/prelingual deafness in Turkey: population structure and mating type are major determinants of mutation identification. Am. J. Med. Genet. A. 2007;143A:1583-1591. DOI 10.1002/ajmg.a.31702

13. Barashkov N.A., Dzhemileva L.U., Fedorova S.A., Teryutin F.M., Posukh O.L., Fedotova E.E., Lobov S.L., Khusnutdinova E.K. Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect. J. Hum. Genet. 2011;56:631-639. DOI 10.1038/jhg.2011.72

14. Tekin M., Xia X.J., Erdenetungalag R., Cengiz F.B., White T.W., Radnaabazar J., Dangaasuren B., Tastan H., Nance W.E., Pandya A. GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf. Ann. Hum. Genet. 2010;74(2):155-164.DOI 10.1111/j.1469-1809.2010.00564.x

15. Ben Arab S., Masmoudi S., Beltaief N., Hachicha S., Ayadi H. Consanguinity and endogamy in Northern Tunisia and its impact on non-syndromic deafness. Genet. Epidemiol. 2004;27:74-79. DOI 10.1002/gepi.10321

16. Toriello H.V., Smith S.D. Hereditary Hearing Loss and Its Syndromes/Third Edition. USA Oxford Monographs on Medical Genetics, 2013.

17. Bender R. The conquest of deafness: a history of the long struggle to make possible normal living to those handicapped by lack of normal hearing. 3rd ed.: Danville, Ill.: Interstate Printers & Publishers, 1981.

18. Tsukamoto K., Suzuki H., Harada D., Namba A., Abe S., Usami S. Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. Eur. J. Hum. Genet. 2003;11:916-922. DOI 10.1038/sj.ejhg.5201073

19. Blanton S.H., Nance W.E., Norris V.W., Welch K.O., Burt A., Pandya A., Arnos K.S. Fitness among individuals with early childhood deafness: Studies in alumni families from Gallaudet University. Ann. Hum. Genet. 2010;74(1):27-33. DOI 10.1111/j.1469- 1809.2009.00553.x

20. Twycross J., Band L.R., Bennett M.J., King J.R., Krasnogor N. Stochastic and deterministic multiscale models for systems biology: an auxin-transport case study. BMC Systems Biol. 2010;4(1):34. DOI 10.1186/1752-0509-4-34

21. Bliznets E.A., Galkina V.A., Matiushchenko G.N., Kisina A.G., Markova T.G., Poliakov A.V. Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness. Genetika = Genetics (Moscow). 2012;48(1):112-124.

22. Van Camp G., Smith R.J.H. Hereditary Hearing Loss Homepage. Available at http://hereditaryhearingloss.org, last update: May 13th, 2015.

23. Bozhkova V.P., Khashaev Z.Kh., Magomedov Sh.M. The study of inherited hearing loss for the children from Republic Dagestan. Fundamentalnye Issledovaniya = Fundamental Research. 2011;5:23-27.

24. Van Laer L., Coucke P., Mueller R.F., Caethoven G., Flothmann K., Prasad S.D., Chamberlin G.P., Houseman M., Taylor G.R., Van de Heyning C.M., Fransen E., Rowland J., Cucci R.A., Smith R.J., Van Camp G. A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J. Med. Genet. 2001;38(8):515-518. DOI 10.1136/jmg.38.8.515

25. Brobby G.W., Müller-Muhsok B., Horstmann R.D. Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N. Engl. J. Med. 1998;19(338):548-550. DOI 10.1056/NEJM199802193380813

26. Wattanasirichaigoon D., Limwongse C., Jariengprasert C., Yenchitsomanus P.T., Tocharoenthanaphol C., Thongnoppakhun W., Thawil C., Charoenpipop D., Pho-iam T., Thongpradit S., Duggal P. High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals. Clin. Genet. 2004;66(5):452-460. DOI 10.1111/j.1399-0004.2004.00325.x

27. Brownstein Z., Friedman L.M., Shahin H., Oron-Karni V., Kol N., Abu Rayyan A., Parzefall T., Lev D., Shalev S., Frydman M., Davidov B., Shohat M., Rahile M., Lieberman S., Levy-Lahad E., Lee M.K., Shomron N., King M.C., Walsh T., Kanaan M., Avraham K.B. Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families. Genome Biol. 2011;12(9):R89. DOI 10.1186/gb-2011-12-9-r89

28. Winata S., Arhya I.N., Moeljopawiro S., Hinnant J.T., Liang Y., Friedman T.B., Asher J.H.Jr. Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village. J. Med. Genet. 1995;32(5):336-343.

29. Carlsson P.I., Danermark B., Borg E. Marital status and birthrate of deaf people in two Swedish counties: the impact of social environment in terms of deaf community. Am. Ann. Deaf. 2004/2005;149(5): 415-420.

30. Zhuravskiy S.G., Ivanov S.A., Taraskina A.E., Grinchik O.V., Kurus A.A. Prevalence of GJB2 gene mutation 35delG among healthy population of Northwest Region of Russia. Meditsinskiy Akademicheskiy Zhurnal = Medical Academic Journal. 2009;9(2):41-45.

31. Chaabani H., Ben Arab S., Chebbi K. Genetic heterogeneity study of non-syndromic autosomal recessive sensorineural deafness within the Tunisian population. Ann. Genet. 1995;38:158-161.

32. Zinchenko R.A., Elchinova G.I., Osipova E.V., Petrova N.V., Ginter E.K. Population Genetics of Hereditary Diseases in the Udmurt Republic. Vestnik Udmurtskogo Universiteta = Bulletin of Udmurt University. 2009а;1:43-57.

33. Christiansen J.B. Sociological implications of hearing loss. Ann. N.Y. Acad. Sci. 1991;630:230-235. DOI 10.1111/j.1749-6632.1991.tb19592.x

34. Zinchenko R.A., Galkina V.A., Bessonova L.A., Dadali E.L., Khlebnikova O.V., Mikhailova L.K., Kadishev V.V., Petrin A.N., Sharonova E.I., Vafina Z.I., Elkanova L.A., Havrilina S.G., Bolotov V.A., Polyakov A.V., Strelnikov V.V., Zacharova E.U., Zaletaev D.V., Ginter E.K. Medical-genetic study of the Tatarstan Republic. II. Diversity of hereditary diseases in three Districts of Republic Kazan-Tatar. Meditsinskaya Genetika = Medical Genetics (Moscow). 2012a;9:31-40.

35. Dai P., Yu F., Han B., Liu X., Wang G., Li Q., Yuan Y., Liu X., Huang D., Kang D., Zhang X., Yuan H., Yao K., Hao J., He J., He Y., Wang Y., Ye Q., Yu Y., Lin H., Liu L., Deng W., Zhu X., You Y., Cui J., Hou N., Xu X., Zhang J., Tang L., Song R., Lin Y., Sun S., Zhang R., Wu H., Ma Y., Zhu S., Wu B.L., Han D., Wong L.J. GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment. J. Transl. Med. 2009;7:26. DOI 10.1186/1479-5876-7-26

36. Zinchenko R.A., Murzabaeva S.Sh., Grinberg Ia.I., Galkina V.A., Khlebnikova O.V., Dadali E.L., Fedotov V.P., Khidiiatova I.M., Khusnutdinova E.K., Ginter E.K. Genetic epidemiological study of Bashkortostan Republic: the diversity of monogenic hereditary diseases in five districts. Genetika = Genetics (Moscow). 2009b;45(5):677-690.

37. Diaz-Horta O., Duman D., Foster J., Sırmacı A., Gonzalez M., Mahdieh N., Fotouhi N., Bonyadi M., Cengiz F.B., Menendez I., Ulloa R.H., Edwards Y.J., Züchner S., Blanton S., Tekin M. Wholeexome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. PLoS One. 2012;7(11):e50628. DOI 10.1371/journal.pone.0050628

38. Zinchenko R.A., Osetrova A.A., Sharonova E.I., Elchinova G.I. Hereditary deafness in Kirov oblast: a genetic epidemiological study. Genetika = Genetics (Moscow). 2012b;48(3):381-388.

39. Di Rienzo A., Hudson R.R. An evolutionary framework for common diseases: the ancestral-susceptibility model. Trends Genet. 2005; 21(11):596-601. DOI 10.1016/j.tig.2005.08.007

40. Zinchenko R.A., Zinchenko S.P., Galkina V.A., Elchinova G.I., Nurbaev S.D., Poliakov A.V., Nekrasova N.U., Ginter E.K. Prevalence and molecular-genetic typing of nonsyndromic sensorineural deafness in the Chuvash Republic. Genetika = Genetics (Moscow).2003;39(9):1275-1284.

41. Du W., Guo Y., Wang C., Wang Y., Liu X. A systematic review and meta-analysis of common mutations of SLC26A4 gene in Asian populations. Int. J. Pediatr. Otorhinolaryngol. 2013;77(10):1670-1676. DOI 10.1016/j.ijporl.2013.07.023

42. Zinchenko S.P., Kirillov A.G., Abrukova A.V., Sorokina T,V,, Sharonova E.I., Khidiatova I.M., Jemileva L.U., Shokarev R.A., Bliznetz E.A., Khusnutdinova E.K., Zinchenko R.A., Ginter E.K. Epidemiological study of hereditary hearing loss (nonsyndromal and syndromal) in Chuvashia Republic. Meditsinskaya Genetika = Medical Genetics (Moscow). 2007;6(5):18-28.

43. Ethnologue: Languages of the World, Eds. Lewis M.P., Simons G.F., Fennig C.D. 18th ed. Dallas, Texas: SIL International. Available at http://www.ethnologue.com. 2015.

44. Fay E.A. Marriages of the Deaf in America. Washington, DC: Volta Bureau, 1898.

45. Ferrer P. Systems biology and biological systems diversity for the engineering of microbial cell factories. Microb. Cell Fact. 2007;6:35. DOI 10.1186/1475-2859-6-35.

46. Ferrer J., Prats C., López D. Individual-based modelling: an essential tool for microbiology. J. Biol. Phys. 2008;34(1-2):19-37. DOI 10.1007/s10867-008-9082-3

47. Gasparini P., Rabionet R., Barbujani G., Melзhionda S., Petersen M., Brшndum-Nielsen K., Metspalu A., Oitmaa E., Pisano M., Fortina P., Zelante L., Estivill X. High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. Eur. J. Hum. Genet. 2000;8:19-23.

48. Groce N.E. Everyone here spoke sign language: hereditary deafness on Martha’s Vineyard. Cambridge, Massachusetts, Harvard Univ. Press, 1985.

49. Hamelmann C., Amedofu G.K., Albrecht K., Muntau B., Gelhaus A., Brobby G.W., Horstmann R.D. Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. Hum. Mutat. 2001;18:84-85. DOI 10.1002/humu.1155

50. Hethcote H.W. The мathematics of infectious diseases. SIAM Rev. 2006;42(4):599-653. DOI 10.1137/S0036144500371907

51. Hoban S., Bertorelle G., Gaggiotti O.E. Computer simulations: tools for population and evolutionary genetics. Nat. Rev. Genet. 2012; 13(2):110-122. DOI 10.1038/nrg3130

52. Hu D.N., Qiu W.Q., Wu B.T., Fang L.Z., Zhou F., Gu Y.P., Zhang Q.H., Yan J.H. Prevalence and genetic aspects of deaf mutism in Shanghai. J. Med. Genet. 1987;24:589-592.

53. Khidiiatova I.M., Dzhemileva L.U., Khabibullin R.M., Khusnutdinova E.K. Frequency of the 35delG mutation of the connexin 26 gene (GJB2) in patients with non-syndromic autosome-recessive deafness from Bashkortostan and in ethnic groups of the Volga- Ural region. Molekulyarnaya Biologiya = Molecular Biology (Moscow). 2002;36(3):438- 441.

54. Lee K.Y., Choi S.Y., Bae J.W., Kim S., Chung K.W., Drayna D., Kim U.K., Lee S.H. Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients. Int. J. Pediatr. Otorhinolaryngol. 2008;72(9):1301-1309. DOI 10.1016/j.ijporl.2008.05.007

55. Lerer I., Sagi M., Malamud E., Levi H., Raas-Rothschild A., Abeliovich D. Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT. Am. J. Med. Genet. 2000;95(1):53-56. DOI 10.1002/1096-8628(20001106)95:1<53::AID-AJMG11>3.0.CO;2-2

56. Lezirovitz K., Pardono E., de Mello Auricchio M.T., de Carvalho E. Silva F.L., Lopes J.J., Abreu-Silva R.S., Romanos J., Batissoco A.C., Mingroni-Netto R.C. Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness. Eur. J. Hum. Genet. 2008;16(1):89-96. DOI 10.1038/sj.ejhg.5201917

57. Liu X.Z., Xia X.J., Ke X.M., Ouyang X.M., Du L.L., Liu Y.H., Angeli S., Telischi F.F., Nance W.E., Balkany T., Xu L.R. The prevalence of connexin 26 (GJB2) mutations in the Chinese population. Hum. Genet. 2002;111:394-397. DOI 10.1007/s00439-002-0811-6

58. Liu X., Xu L., Zhang S., Xu Y. Epidemiological and genetic studies of congenital profound deafness in the general population of Sichuan, China. Am. J. Med. Genet. 1994;53(2):192-195.

59. Marazita M.L., Ploughman L.M., Rawlings B., Remington E., Arnos K.S., Nance W.E. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am. J. Med. Genet. 1993;46:486-491.

60. Markova T.G., Megrelishvilli S.M., Zaĭtseva N.G., Shagina I.A., Poliakov A.V. DNA diagnosis in congenital and early childhood hypoacusis and deafness. Vestnik Otorinolaringologii = Bulletin of Otorhinolaryngology. 2002;6:12-15.

61. Markova T.G., Poliakov A.V., Kunelskaia N.L. Clinical picture of hearing defects caused by Cx26 gene mutations. Vestnik Otorinolaringologii = Bulletin of Otorhinolaryngology. 2008;2:4-9.

62. Martins M.L., Ferreira S.C., Vilela M.J. Multiscale models for biological systems. Curr. Opin. Colloid & Interface Sci. 2010;15(1-2):18-23. DOI 10.1016/j.cocis.2009.04.004

63. Middleton A., Hewison J., Mueller R.F. Attitudes of deaf adults toward genetic testing for hereditary deafness. Am. J. Hum. Genet. 1998;63: 1175-1180. DOI 10.1086/302060

64. Middleton A., Hewison J., Mueller R. Prenatal diagnosis for inherited deafness – What is the potential demand? J. Genet. Couns. 2001;10: 121-131.

65. Morell R.J., Kim H.J., Hood L.J., Goforth L., Friderici K., Fisher R., Van Camp G., Berlin C.I., Oddoux C., Ostrer H., Keats B., Friedman T.B. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N. Engl. J. Med. 1998;339:1500-1505. DOI 10.1056/NEJM199811193392103

66. Morton C.C., Nance W.E. Newborn hearing screening – a silent revolution. N. Engl. J. Med. 2006;354(20):2151-2164. DOI 10.1056/NEJMra050700

67. Mossong J., Hens N., Jit M., Beutels P., Auranen K., Mikolajczyk R., Edmunds W.J. Social contacts and mixing patterns relevant to the spread of infectious diseases. PLoS Med.. 2008;5(3):e74. DOI 10.1371/journal.pmed.0050074

68. Nance W.E. The genetics of deafness. Ment. Retard. Dev. Disabil. Res. Rev. 2003;9(2):109-119.

69. Nance W.E., Liu X.Z., Pandya A. Relation between choice of partner and high frequency of connexin-26 deafness. Lancet. 2000; 356(9228):500-501. DOI 10.1016/S0140-6736(00)02565-4

70. Nance W.E., Kearsey M.J. Relevance of connexin deafness (DFNB1) to human evolution. Am. J. Hum. Genet. 2004;74(6):1081-1087. DOI 10.1086/420979

71. Nekrasova N.Y., Shagina I.A., Petrin A.N., Polyakov A.V. The frequency of mutation 35delG in the connexin 26 gene in children with early childhood sensorineural hearing loss. Meditsinskaya Genetika = Medical Genetics (Moscow). 2002;1(6):290-294.

72. Ohtsuka A., Yuge I., Kimura S., Namba A., Abe S., Van Laer L., Van Camp G., Usami S. GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. Hum. Genet. 2003;112:329-333. DOI 10.1007/s00439-002- 0889-x

73. Osetrova A.A., Sharonova Ye.I., Rossinskaya T.G., Galkina V.A., Zinchenko R.A. Investigation of genetic aspects of congenital and early childhood deafness in specialized schools for children with impaired hearing of Kirov region, Russia. Meditsinskaya Genetika = Medical Genetics (Moscow). 2010;9:30-40.

74. Padden C., Humphries T. Deaf in America: voices from a culture. Cambridge, MA: Harvard Univ. Press, 1988.

75. Park H.J., Hahn S.H., Chun Y.M., Park K., Kim H.N. Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope. 2000;110(9):1535-1538. DOI 10.1097/00005537-200009000-00023

76. Park H.J., Shaukat S., Liu X.Z., Hahn S.H., Naz S., Ghosh M., Kim H.N., Moon S.K., Abe S., Tukamoto K., Riazuddin S., Kabra M., Erdenetungalag R., Radnaabazar J., Khan S., Pandya A., Usami S.I., Nance W.E., Wilcox E.R., Riazuddin S., Griffith A.J. Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J. Med. Genet. 2003;40(4):242-248. DOI 10.1136/jmg.40.4.242

77. Peng B., Amos C.I., Kimmel M. Forward-time simulations of human populations with complex diseases. PLoS Genet. 2007;3(3):e47. DOI 10.1371/journal.pgen.0030047

78. Posukh O., Pallares-Ruiz N., Tadinova V., Osipova L., Claustres M., Roux A.F. First molecular screening of deafness in the Altai Republic population. BMC Med. Genet. 2005;6(1):12. DOI 10.1186/1471- 2350-6-12

79. Prezioso C.T. Cultural aspects of deafness (the Deaf community). Ed. J. Israel. An Introduction to Deafness: a Manual for Genetic Counselors. Washington DC: Gallaudet Research Institute, Gallaudet Univ.,1995.

80. Prozorova E.V. Russian sign language as a subject of linguistic research. Voprosy Yazykoznaniya = Topics in the Study of Language. 2007;1:44-61.

81. Pshennikova V.G., Barashkov N.A., Teryutin F.M., Solovyev A.V., Klarov L.A., Romanov G.P., Gotovtsev N.N., Savvinova K.E., Kozhevnikov A.A., Sidorova O.G., Vasilyevа L.M., Fedotova E.E., Morozov I.V., Bondar A.A., Solovyovа N.A., Kononova S.K., Rafailov A.M., Sazonov N.N., Alekseev A.N., Posukh O.L., Dzhemileva L.U., Khusnutdinova E.K., Fedorova S.A. GJB2 mutation spectrum in patients with congenital hearing loss in Yakutia. Meditsinskaya Genetika = Medical Genetics (Moscow). 2015;6:10-21.

82. Puzyrev V.P., Erdyniyeva L.S., Kucher A.N., Nazarenko L.P. Genetikoepidemiologicheskoe issledovanie naseleniya Tuvy [Genetic epidemiological study of the Tyva population]. Tomsk, STT, 1999.

83. Qu Z., Garfinkel A., Weiss J. N., Nivala M. Multi-scale modeling in biology: how to bridge the gaps between scales? Progr. Biophys. Mol. Biol. 2011;107(1):21-31. DOI 10.1016/j.pbiomolbio.2011.06.004

84. Rabionet R., Zelante L., López-Bigas N., D’Agruma L., Melchionda S., Restagno G., Arbonés M.L., Gasparini P., Estivill X. Molecular bases of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. Hum. Genet. 2000;106:40-44. DOI 10.1007/s004399900192

85. RamShankar M., Girirajan S., Dagan O., Ravi Shankar H.M., Jalvi R., Rangasayee R., Avraham K.B., Anand A. Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India. J. Med. Genet. 2003;40:e68. DOI 10.1136/jmg.40.5.e68

86. Rapin I. Consequences of congenital hearing loss: A long-term view. J. Otolaryngol. 1978;7(6):473-483.

87. Rose S.P. Genetic Studies of Profound Prelingual Deafness. PhD Thesis (Indiana Univ.). 1975.

88. Ruben R.J. The history of the genetics of hearing impairment. Ann. N.Y. Acad. Sci. 1991;630:6-15. DOI 10.1111/j.1749-6632.1991.tb19571.x

89. Sattenspiel L., Dietz K. A structured epidemic model incorporating geographic mobility among regions. Math. Biosci. 1995;128(1-2): 71-91. DOI 10.1016/0025-5564(94)00068-B

90. Schein J. The Deaf community. Eds H. Davis, S.R. Silverman. Hearing and Deafness. 4th ed. N.Y.: Holt, Rinehart, Winston, 1978.

91. Schein J., Delk M. The Deaf Population of the United States. Silver Spring, MD: National Association of the Deaf, 1974.

92. Scott D.A., Carmi R., Elbedour K., Duyk G.M., Stone E.M., Sheffield V.C. Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. Am. J. Hum. Genet. 1995;57:965-968.

93. Sharonova E.I., Osetrova A.A., Zinchenko R.A. Hereditary hearing loss in the Kirov region. Yakutskiy Meditsinskiy Zhurnal = Yakut Medical Journal. 2009;2(29):28-31.

94. Shokarev R.A., Amelina S.S., Kriventsova N.V., Khlebnikiva O.V., Bliznetz E.A., Polyakov A.V., Zinchenko R.A. Genetic-epidemiological and molecular-genetic study of hereditary deafness in the Rostov province. Meditsinskaya Genetika = Medical Genetics (Moscow). 2005;4(12):556-567.

95. Sirmaci A. A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia. Clin. Genet. 2009;75(6):562-567. DOI 10.1111/j.1399- 0004.2009.01183.x

96. Sirmaci A., Edwards Y.J., Akay H., Tekin M. Challenges in whole exome sequencing: an example from hereditary deafness. PLoS One. 2012;7(2):e32000. DOI 10.1371/journal.pone.0032000

97. Stenson P.D., Mort M., Ball E.V., Shaw K., Phillips A., Cooper D.N. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum. Genet. 2014;133(1):1-9. DOI 10.1007/s00439-013-1358-4

98. Stern S.J., Arnos K.S., Murrelle L., Welch K.O., Nance W.E., Pandya A. Attitudes of Deaf and hard of hearing subjects toward genetic testing and prenatal diagnosis of hearing loss. J. Med. Genet. 2002;39:449- 453. DOI 10.1136/jmg.39.6.449

99. Tarskaia L.A., Zinchenko R.A., Elchinova G.I., Egorova A.G., Korotov M.N., Basova E.V., Prokopeva A.M., Sivtseva E.N., Nikolaeva E.E., Banshchinkova E.S., Samarkina M.V., Sannikova A.N., Danilova G.I., Zhelobtsova A.F., Danilova A.P., Popova G.N. The structure and diversiity of hereditary pathology in Sakha Republic (Yakutia). Genetika = Genetics (Moscow). 2004;40(11):1530-1539.

100. Tekin M., Arici Z.S. Genetic epidemiological studies of congenital/prelingual deafness in Turkey: population structure and mating type are major determinants of mutation identification. Am. J. Med. Genet. A. 2007;143A:1583-1591. DOI 10.1002/ajmg.a.31702

101. Tekin M., Xia X.J., Erdenetungalag R., Cengiz F.B., White T.W., Radnaabazar J., Dangaasuren B., Tastan H., Nance W.E., Pandya A. GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf. Ann. Hum. Genet. 2010;74(2):155-164.DOI 10.1111/j.1469-1809.2010.00564.x

102. Toriello H.V., Smith S.D. Hereditary Hearing Loss and Its Syndromes/Third Edition. USA Oxford Monographs on Medical Genetics, 2013.

103. Tsukamoto K., Suzuki H., Harada D., Namba A., Abe S., Usami S. Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. Eur. J. Hum. Genet. 2003;11:916-922. DOI 10.1038/sj.ejhg.5201073

104. Twycross J., Band L.R., Bennett M.J., King J.R., Krasnogor N. Stochastic and deterministic multiscale models for systems biology: an auxin-transport case study. BMC Systems Biol. 2010;4(1):34. DOI 10.1186/1752-0509-4-34

105. Van Camp G., Smith R.J.H. Hereditary Hearing Loss Homepage. Available at http://hereditaryhearingloss.org, last update: May 13th, 2015.

106. Van Laer L., Coucke P., Mueller R.F., Caethoven G., Flothmann K., Prasad S.D., Chamberlin G.P., Houseman M., Taylor G.R., Van de Heyning C.M., Fransen E., Rowland J., Cucci R.A., Smith R.J., Van Camp G. A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J. Med. Genet. 2001;38(8):515-518. DOI 10.1136/jmg.38.8.515

107. Wattanasirichaigoon D., Limwongse C., Jariengprasert C., Yenchitsomanus P.T., Tocharoenthanaphol C., Thongnoppakhun W., Thawil C., Charoenpipop D., Pho-iam T., Thongpradit S., Duggal P. High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals. Clin. Genet. 2004;66(5):452-460. DOI 10.1111/j.1399-0004.2004.00325.x

108. Winata S., Arhya I.N., Moeljopawiro S., Hinnant J.T., Liang Y., Friedman T.B., Asher J.H.Jr. Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village. J. Med. Genet. 1995;32(5):336-343.

109. Zhuravskiy S.G., Ivanov S.A., Taraskina A.E., Grinchik O.V., Kurus A.A. Prevalence of GJB2 gene mutation 35delG among healthy population of Northwest Region of Russia. Meditsinskiy Akademicheskiy Zhurnal = Medical Academic Journal. 2009;9(2):41-45.

110. Zinchenko R.A., Elchinova G.I., Osipova E.V., Petrova N.V., Ginter E.K. Population Genetics of Hereditary Diseases in the Udmurt Republic. Vestnik Udmurtskogo Universiteta = Bulletin of Udmurt University. 2009а;1:43-57.

111. Zinchenko R.A., Galkina V.A., Bessonova L.A., Dadali E.L., Khlebnikova O.V., Mikhailova L.K., Kadishev V.V., Petrin A.N., Sharonova E.I., Vafina Z.I., Elkanova L.A., Havrilina S.G., Bolotov V.A., Polyakov A.V., Strelnikov V.V., Zacharova E.U., Zaletaev D.V., Ginter E.K. Medical-genetic study of the Tatarstan Republic. II. Diversity of hereditary diseases in three Districts of Republic Kazan-Tatar. Meditsinskaya Genetika = Medical Genetics (Moscow). 2012a;9:31-40.

112. Zinchenko R.A., Murzabaeva S.Sh., Grinberg Ia.I., Galkina V.A., Khlebnikova O.V., Dadali E.L., Fedotov V.P., Khidiiatova I.M., Khusnutdinova E.K., Ginter E.K. Genetic epidemiological study of Bashkortostan Republic: the diversity of monogenic hereditary diseases in five districts. Genetika = Genetics (Moscow). 2009b;45(5):677-690.

113. Zinchenko R.A., Osetrova A.A., Sharonova E.I., Elchinova G.I. Hereditary deafness in Kirov oblast: a genetic epidemiological study. Genetika = Genetics (Moscow). 2012b;48(3):381-388.

114. Zinchenko R.A., Zinchenko S.P., Galkina V.A., Elchinova G.I., Nurbaev S.D., Poliakov A.V., Nekrasova N.U., Ginter E.K. Prevalence and molecular-genetic typing of nonsyndromic sensorineural deafness in the Chuvash Republic. Genetika = Genetics (Moscow).2003;39(9):1275-1284.

115. Zinchenko S.P., Kirillov A.G., Abrukova A.V., Sorokina T,V,, Sharonova E.I., Khidiatova I.M., Jemileva L.U., Shokarev R.A., Bliznetz E.A., Khusnutdinova E.K., Zinchenko R.A., Ginter E.K. Epidemiological study of hereditary hearing loss (nonsyndromal and syndromal) in Chuvashia Republic. Meditsinskaya Genetika = Medical Genetics (Moscow). 2007;6(5):18-28.