Complex assessment of pathogenicity of novel variant c.516G > C (p.Trp172Cys) in the GJB2 gene associated with hearing loss in indigenous peoples of Southern Siberia (Russia)

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Complex assessment of pathogenicity of novel variant c.516G > C (p.Trp172Cys) in the GJB2 gene associated with hearing loss in indigenous peoples of Southern Siberia (Russia). / Maslova, E. A.; Zytsar, M. V.; Danilchenko, V. Y. et al.

In: European journal of human genetics, Vol. 28, No. Suppl 1, P02.27.B, 01.12.2020, p. 191-192.

Research output: Contribution to journal › Meeting Abstract › peer-review

BibTeX

@article{6780d1eabbae41b0873f6b0aa6f51660,

title = "Complex assessment of pathogenicity of novel variant c.516G > C (p.Trp172Cys) in the GJB2 gene associated with hearing loss in indigenous peoples of Southern Siberia (Russia)",

abstract = "Assessment of pathogenicity of novel variants is a primary task for molecular diagnostics of hereditary diseases. Mutations in gene GJB2 encoding transmembrane protein Cx26 are the common cause for hearing loss worldwide. We present a complex assessment of pathogenicity of novel non-synonymous variant c.516G>C (p.Trp172Cys) in GJB2 found with high frequency in deaf patients belonging to indigenous peoples of Southern Siberia (Tuvinians and Altaians).",

author = "Maslova, {E. A.} and Zytsar, {M. V.} and Danilchenko, {V. Y.} and Orishchenko, {K. E.} and Posukh, {O. L.}",

note = "Study was supported by Project #0324-2019-0041-C-01 and RFBR grant #17-29-06016_ofi-m.; 53rd Conference of the European-Society-of-Human-Genetics (ESHG), ESHG ; Conference date: 06-06-2020 Through 09-06-2020",

year = "2020",

month = dec,

day = "1",

doi = "10.1038/s41431-020-00739-z",

language = "English",

volume = "28",

pages = "191--192",

journal = "European journal of human genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "Suppl 1",

}

RIS

TY - JOUR

T1 - Complex assessment of pathogenicity of novel variant c.516G > C (p.Trp172Cys) in the GJB2 gene associated with hearing loss in indigenous peoples of Southern Siberia (Russia)

AU - Maslova, E. A.

AU - Zytsar, M. V.

AU - Danilchenko, V. Y.

AU - Orishchenko, K. E.

AU - Posukh, O. L.

N1 - Conference code: 53

PY - 2020/12/1

Y1 - 2020/12/1

N2 - Assessment of pathogenicity of novel variants is a primary task for molecular diagnostics of hereditary diseases. Mutations in gene GJB2 encoding transmembrane protein Cx26 are the common cause for hearing loss worldwide. We present a complex assessment of pathogenicity of novel non-synonymous variant c.516G>C (p.Trp172Cys) in GJB2 found with high frequency in deaf patients belonging to indigenous peoples of Southern Siberia (Tuvinians and Altaians).

AB - Assessment of pathogenicity of novel variants is a primary task for molecular diagnostics of hereditary diseases. Mutations in gene GJB2 encoding transmembrane protein Cx26 are the common cause for hearing loss worldwide. We present a complex assessment of pathogenicity of novel non-synonymous variant c.516G>C (p.Trp172Cys) in GJB2 found with high frequency in deaf patients belonging to indigenous peoples of Southern Siberia (Tuvinians and Altaians).

UR - http://www.scopus.com/inward/record.url?scp=85097034917&partnerID=8YFLogxK

U2 - 10.1038/s41431-020-00739-z

DO - 10.1038/s41431-020-00739-z

M3 - Meeting Abstract

C2 - 33262485

VL - 28

SP - 191

EP - 192

JO - European journal of human genetics

JF - European journal of human genetics

SN - 1018-4813

IS - Suppl 1

M1 - P02.27.B

T2 - 53rd Conference of the European-Society-of-Human-Genetics (ESHG)

Y2 - 6 June 2020 through 9 June 2020

ER -

ID: 27504780