A rare variant of p.7636C>T p.(Gln2546*) of the MYO15A gene in two patients from Buryatia with sensorineural deafness
A. M. Cherdonova,
T. V. Borisova,
F. M. Teryutin,
V. G. Pshennikova,
A. V. Soloviev,
G. P. Romanov,
S. A. Fedorova,
N. A. Barashkov https://doi.org/10.25789/YMJ.2024.85.07
Abstract
In the world the role of pathogenic variants of the MYO15A gene in the etiology of hearing loss has not been sufficiently studied, since the large size of the gene (66 exons, 71 kb) suggests the search for pathogenic variants using NGS technologies, which are not yet sufficiently used in routine practice. In this regard, it is relevant to study the role of pathogenic variants of the MYO15A gene in the etiology of non-syndromic forms of hearing impairments. The purpose of this work is to describe the rare pathogenic variant c.7636C>T p.(Gln2546*) in the MYO15A gene, found in a homozygous state in two siblings with prelingual profound sensorineural hearing loss from a Buryat family. Previously, this variant was found only in one patient in a compound-heterozygous state with another nonsense variant in the MYO15A gene in Brazil and described as pathogenic. Detection of variant c.7636C>T p.(Gln2546*) in a homozygous state in Buryat siblings may indicate either a rare case of endogamous marriage or a wider distribution of this variant in the Lake Baikal region.
Keywords
autosomal recessive deafness (DFNB3),
MYO15A gene,
variant c.7636C>T p.(Gln2546*),
Republic of Buryatia
Supporting agencies: The work was carried out within the framework of the research of the YSC CMP "Study of the genetic structure and burden of hereditary pathology in the populations of the Republic of Sakha (Ya- kutia)» and the State assignment of the Ministry of Science and Higher Education of the Russian Federation (FSRG-2023- 0003).
About the Authors
A. M. Cherdonova
M.K. Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
CHERDONOVA Aleksandra Matveevna – postgraduate student
T. V. Borisova
M.K. Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
BORISOVA Tuyara Valeryevna – postgraduate student
F. M. Teryutin
Yakut Scientific Centre of Complex Medical Problems
Russian Federation
Russian Federation
TERYUTIN Fyodor Mikhailovich – PhD
V. G. Pshennikova
Yakut Scientific Centre of Complex Medical Problems
Russian Federation
Russian Federation
PSHENNIKOVA Vera Gennadievna – PhD in Biology
A. V. Soloviev
M.K. Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
SOLOVIEV Aisen Vasilyevich – PhD in Biology
G. P. Romanov
M.K. Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
ROMANOV Georgy Prokopievich - PhD in Biology
S. A. Fedorova
M.K. Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
FEDOROVA Sardana Arkadyevna – Doctor in Biology
N. A. Barashkov
Yakut Scientific Centre of Complex Medical Problems
Russian Federation
Russian Federation
BARASHKOV Nikolay Alekseevich – PhD in Biology
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Review
For citations:
Cherdonova A.M., Borisova T.V., Teryutin F.M., Pshennikova V.G., Soloviev A.V., Romanov G.P., Fedorova S.A., Barashkov N.A. A rare variant of p.7636C>T p.(Gln2546*) of the MYO15A gene in two patients from Buryatia with sensorineural deafness. Yakut Medical Journal. 2024;(1):27-29. https://doi.org/10.25789/YMJ.2024.85.07
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