Medical and genetical consultation of patients with hereditary nonsyndromal deafness

To prevent and reduce hereditary deafness in the region, it is necessary to analyze the current medical genetic counseling of families with hereditary nonsyndromic deafness in the region and develop the necessary recommendations for further work. The purpose of this study was to develop scientifically sound proposals for the development of regional methods for the prevention, diagnosis and treatment of nonsyndromic deafness / hearing loss, increasing the level of availability and quality of medical care for the population of Yakutia. Materials and methods of research. An analysis of pedigrees in families registered on the basis of the medical and genetic center Republican hospital No. 1-National Center of Medicine with the diagnosis of hereditary congenital deafness was carried out. The material for molecular research for the most common mutation for the Yakut population of c.-23 + 1G>A in the GJB2 gene was samples of genomic DNA of peripheral blood leukocytes from 45 patients with the diagnosis: hereditary sensorineural deafness / hearing loss of degree 2-4. Results and discussion. The number of assortative marriages was 33.3 % in 35 pedigrees. A molecular genetic study was conducted in the families examined for the presence of a mutation c.-23 + 1G>A in the GJB2 gene in patients with congenital hearing loss of the registered medical genetic center. The mutation was detected in 44.4 % of the examined. Conclusions and discussion: recommendations were developed and proposed for the prevention of hereditary deafness in the region.

deafness, gene GJB2, mutation с.-23 + 1G>A, medical genetic counseling, Republic of Sakha (Yakutia)

1. Smith R.J., Bale J. Sensorineural hearing loss in children / R.J. Smith, J. Bale // Lancet. - 2005. - Vol. 365. - P. 879-90.

2. Bitner-Glindzicz, M. Hereditary deafness and phenotyping in humans / M. Bitner-Glindzicz // British Med. Bulletin. - 2002. - Vol. 63 - P. 73-94.

3. Электронный ресурс. Режим доступа: http: // hereditaryhearingloss, орг. / обновлен в январе 2018 года.

4. Mueller, R.F., Nehammer, A. Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations- molecular and audiological findings / R.F. Mueller, A. Nehammer // Int. J. Pediatr. Otorhinolaryngol. - 1999. - Vol. 50 (1) - P. 3-13.

5. Park, H.J., Hahn, S. Connexin 26 mutations associated with nonsyndromic hearing loss / H.J. Park, S. Hahn // Laringoscope. - 2000. - Vol. 110. - P. 1535-1538.

6. Abe, S., Usami, S. Prevalent Connexin 26 gene (GJB2) mutation in Japanese / S. Abe, S. Usami // J. Med. Genet. - 2000. - Vol. 37 (1) - P. 41-43.

7. Chen, Yu, Zhang, Hua. Genetic Mutations in Non-syndrmic deafness patients of Uyghur and Han Chinese ethnicities in Xinjiang, China: A comparative study / Yu Chen, Hua Zhang // J. Translational. med. - 2011. - Vol. 9. - P. 154.

8. Padma, G. GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment / G. Padma, P. V. Ramchander, U.V. Nandur et al. // J. Genet. - 2009. - № 88. - P. 267-272.

9. Барашков, Н.А. Мутация сайта сплайсинга q.-3179 (IVS1+1G>A) гена GJB2 - основная причина наследственной несиндромальной аутосомно-рецессивной глухоты у якутов / Н.А. Барашков, Л.У. Джемилева, С.А. Федорова и др. // Медицинская генетика. - 2010. - № 7 (97). - С. 22-33.

10. Barashkov, N. Age-Related Hearing Impairment (ARHI) Associated with GJB2 Single Mutation IVS1+1G. A in the Yakut Population Isolate in Eastern Siberia / N. Barashkov, F. Teryutin, V. Pshennikova et al. // PLOS ONE. - 2014. - Vol. 9 - P. 100848.

11. Соловьев, А.В. Реконструкция SNP-гаплотипов с мутацией с.-23+1G>A гена GJB2 человека в некоторых популяциях Евразии / А.В. Соловьев, Н.А. Барашков, М.С. Бады-Хоо и др.// Генетика. - 2017. - № 8. - C. 988-993.

12. Пшенникова, В.Г. Поиск мутаций в генах GJB6(Cx30) и GJB3(Cx31) у глухих пациентов с моноаллельными мутациями / В.Г. Пшенникова, Н.А. Барашков, А.В. Соловьев и др. // Генетика. - 2017. - № 6. - C. 705-715.

13. Терютин, Ф.М. Аудиологический анализ у пациентов с потерей слуха, гомозиготных по мутации с.-23+1G>A гена GJB2 в Якутии / Ф.М. Терютин, Н.А. Барашков, Н.А. Кунельская и др. // Вестник отоларингологии. - 2016. - № 1. - С.19-24.

14. Терютин, Ф.М. Кохлеарная имплантация у ребенка с врожденной сенсоневральной глухотой, обусловленной мутацией 35delG в гене GJB2 (коннексин 26) / Ф.М. Терютин, Н.А. Барашков и др. // Вестник отоларингологии. - 2009. - № 2. - С.17-19.

15. Маркова, Т.Г. Клинико-генетический анализ врожденной и доречевой тугоухости: автореф. дис. … д-ра мед. наук / Т.Г. Маркова. М., 2008. 26 с.

16. Мурзабаева, С.Ш. Оптимизация медико-генетической службы Республики Башкортостан: автореф. дис. … д-ра мед. наук / С.Ш. Мурзабаева. М., 2010. 25 с.

17. Mathew, C. C. The isolation of high molecular weight eucariotic DNA / C. C. Mathew // Methods in Molecular Biology. Human Press. - 1984. - Vol. 2. - P. 31-34.

18. Готовцева, Л.В. Пренатальная диагностика в Республике Саха (Якутия) / Л.В. Готовцева, А.Л. Сухомясова, Т.Ю. Павлова // Генетические исследования населения Якутии. Якутск, 2014. С. 245-259.