Variability of auditory threshold at deaf patients with splice site c.-23+1G>A mutation in GJB2 gene (Konneksin 26)
Abstract
In this article results of the audiological examination testifying to auditory threshold variability at deaf patients with splice site c.-23+1G>A mutation in GJB2 gene in homozygous state are presented. According to this study this GJB2-genotype is characterized by (horizontal) flat or sloping audioprofile. There are recommendations for applying the results obtained in practice.
Supporting agencies: We thank all patients and blood sample donors who have contributed to this study. This study was supported by the grants of the Russian Foundation for Basic Research (14-04-01741_A), (15-44-05106-r_vostok_a), (14-04-9010_Bel_A), (15-04-04860_A), Integration project of SB RAS #92 «Ethnogeny of indigenous peoples in Siberia and North Asia: comparative, historical, ethno -social and genomic analysis», the Sakha Republic President Grant #80 for Young Researchers in 2015 (Medical Sciences) (RP №80 from 05.02.2015), and Project GK №6.656.2014/K of Ministry of Education and Science of Russia.
About the Authors
F. M. Teryutin
FSBSI «Yakut scientific centre of complex medical problems»
Россия
Россия
Fedor M. Terjutin - junior researcher.
N. A. Barashkov
FSBSI «Yakut scientific centre of complex medical problems»
Россия
Россия
Nikolay A. Barashkov – cand. biol. sciences, head of lab.
N. L. Kunelskaya
SBEH «Moscow research clinical institute of otolaryngology of L.I. Sverzhevsky» of the Department of public health of Moscow
Россия
Россия
Natalia L. Kunelskaya – doctor of med. sciences, prof., deputy director on scientific work.
V. G. Pshennikova
FSBSI «Yakut scientific centre of complex medical problems»
Россия
Россия
Vera G. Pshennikova – researcher.
A. V. Solovyev
FSAEI HPE «Northeast federal university of M.K. Ammosov»
Россия
Россия
Aisen V. Soloviev – engineer.
L. A. Klarov
FSBSI of cytology and genetics SB RAMS; SBE RS (Y) RH №2 - Center of urgent medical aid
Россия
Россия
Leonid A. Klarov - doctor radiologist.
Novosibirsk
A. A. Kozhevnikov
FSBSI of cytology and genetics SB RAMS; SBE RS (Y) RH №2 - Center of urgent medical aid
Россия
Россия
Andrey A. Kozhevnikov - doctor, professional pathologist, chief non-staff profathologist of MH RS (Y).
Novosibirsk
L. M. Vasilyeva
SBI RS(Y) «RH №1-National Cantre of Medicine»
Россия
Россия
Lena M. Vasilieva – teacher of the deaf and hard of hearing.
E. E. Fedotova
SBI RS(Y) «RH №1-National Cantre of Medicine»
Россия
Россия
Elvira E. Fedotova – cand. med. sciences, doctor, surdologist -otolaringologist, chief non-staff surdologist MH RS (Y).
G. P. Romanov
FSAEI HPE «Northeast federal university of M.K. Ammosov»
Россия
Россия
Georgiy P. Romanov - lab. Researcher.
N. N. Gotovtsev
FSBSI «Yakut scientific centre of complex medical problems»
Россия
Россия
Nurgun N. Gotovsev – junior researcher.
M. V. Pak
FSAEI HPE «Northeast federal university of M.K. Ammosov»
Россия
Россия
Maria V. Pak - post-graduate student.
S. N. Lekhanova
FSAEI HPE «Northeast federal university of M.K. Ammosov»
Россия
Россия
Sargylana N. Lekhanova - к.м.н., senior lecturer.
I. V. Morozov
FSBSI of chemical biologies and fundamental medicine SB RAMS, the Center of collective using "Genomika"
Россия
Россия
Igor V. Morozov – cand. biol. sciences, senior researcher.
Novosibirsk
A. A. Bondar
FSBSI of chemical biologies and fundamental medicine SB RAMS, the Center of collective using "Genomika"
Россия
Россия
Alexander A. Bondar – cand. chemical sciences, senior researcher.
Novosibirsk
N. A. Solovyeva
FSBSI «Yakut scientific centre of complex medical problems»
Россия
Россия
Natalia A. Solovieva – cand. med. sciences, junior researcher.
A. M. Rafailov
FSAEI HPE «Northeast federal university of M.K. Ammosov»
Россия
Россия
Adjum M. Rafailov – cand. biol. sciences, senior lecturer.
A. N. Alekseev
FSBSI on humanitarian researches and problems of small numbered North people SB RAMS
Россия
Россия
Anatoly N. Alekseev – doctor of historical sciences, prof., director.
O. L. Posukh
FSBSI of chemical biologies and fundamental medicine SB RAMS, the Center of collective using "Genomika"
Россия
Россия
Olga L. Posukh – cand. biol. sciences, senior researcher.
Novosibirsk
L. U. Dzhemileva
FSBSI «Institute of biochemistry and genetics SC SB RAMS»
Россия
Россия
Lilia U. Dzhemileva – docror med. sciences, senior researcher.
Ufa
E. K. Husnutdinova
FSBSI «Institute of biochemistry and genetics SC SB RAMS»
Россия
Россия
Elza K. Husnutdinova – doctor of biol. sciences, prof., head of the Department og genetics.
Ufa
S. A. Fedorova
FSAEI HPE «Northeast federal university of M.K. Ammosov»
Россия
Россия
Sardana A. Fedorova – doctor biol. sciences, head of the scientific lab. of molecular biology.
References
1. Markova T.G. Kliniko-geneticheskiy analiz vrojdennoy I dorechevoy tugouckosti /avtoref. dis. na soisk. uchen. step. dokt. med. nauk (14.00.04; 03.00.15) /Markova Tatyana Gennadyevna; RNPCAiS. – Moskva, 2008, - 26 s.
2. Bajaj Y., Sirimanna T., Albert D.M. et al. Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population / Y. Bajaj // Clin. Otolaryngol. - 2008. - № 33. - P.313-318.
3. Barashkov N.A., Dzhemileva L.U., Fedorova S.A. et al. 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 / N.A. Barashkov // J. Hum. Genet. - 2011. - № 9. - Р.631-639.
4. Cryns K., Orzan E., Murgia A. et al. A genotype-phenotype correlation for GJB2 (connexin 26) deafness / K. Cryns // J. Med. Genet. - 2004. - № 41. - P.147-154.
5. Kelley P., Harris D., Comer B. et. al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss //Am. J. Hum. Genet. - 1998. - Vol. 62(4). - P. 792-799.
6. Kelsell D.P., Dunlop J., Stevens HP. et al. Connexin 26 mutations in hereditary nonsyndromic sensorineural deafness // Nature. - 1997. - Vol. 387(6628). - P. 80-83.
7. Kenna M.A., Feldman H.A., Neault M.W. et al. Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss / M.A. Kenna // Arch. Otolaryngol. Head Neck Surg. - 2010. - 136(1). - P.81-7.
8. Marazita M.L., Ploughman L.M., Rawlings B. et al. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population / M.L. Marazita // Am. J. Med. Genet. - 1993. - V.46. - № 5. P.486-491.171 2 (50) 2015
9. Mehl A., Thompson V. The Colorado newborn screening project, 1992-1999: on the threshold of effective of population based universal newborn hearing screening / A. Mehl // Pediatrics. - 2002. - Vol.109. - E7.
10. Murgia A., Orzan E., Polli R. et al. Cx26 deafness: mutation analysis and clinical variability / A.Murgia // J. Med. Genet. - 1999. - № 36. - P.829-832.
11. Oguchi T., Ohtsuka A., Hashimoto S. et al. Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns / T. Oguchi // J. Hum. Genet. - 2005. - № 50. - P.76-83.
12. Sirmaci A., Akcayoz-Duman D., Tekin M. The c.IVS1+1G>A mutation in the GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population / A. Sirmaci // J. Genet. - 2006. -Vol.85. - P.213-216.
13. Snoeckx R.L., Huygen P.L.M., Feldmann D. et al. GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study / R.L. Snoeckx // Am. J. Hum. Genet. - 2005. - № 77. - P.945-957.
Review
For citations:
Teryutin F.M., Barashkov N.A., Kunelskaya N.L., Pshennikova V.G., Solovyev A.V., Klarov L.A., Kozhevnikov A.A., Vasilyeva L.M., Fedotova E.E., Romanov G.P., Gotovtsev N.N., Pak M.V., Lekhanova S.N., Morozov I.V., Bondar A.A., Solovyeva N.A., Rafailov A.M., Alekseev A.N., Posukh O.L., Dzhemileva L.U., Husnutdinova E.K., Fedorova S.A. Variability of auditory threshold at deaf patients with splice site c.-23+1G>A mutation in GJB2 gene (Konneksin 26). Yakut Medical Journal. 2015;(2):100-102.
Views:
85
JATS XML
Email this article 