A novel mutation in the COL4A5 gene in the Yakut family with Alport syndrome
A. M. Cherdonova,
N. A. Barashkov,
F. M. Teryutin,
V. G. Pshennikova,
T. V. Borisova,
A. A. Nikanorova,
A. V. Solovyov,
G. P. Romanov,
S. A. Fedorova https://doi.org/10.25789/YMJ.2022.80.05
Abstract
Alport syndrome is a hereditary progressive kidney disease associated with sensorineural hearing loss and vision abnormalities, which is caused by mutations in the COL4A3, COL4A4, and COL4A5 genes encoding the α3, α4, and α5 type IV collagen chains. This paper presents a case with a novel hemizygous mutation in the COL4A5 gene in a Yakut family with Alport syndrome. The study involved 228 GJB2-negative patients with varying degrees of hearing loss and deafness living in the Republic of Sakha (Yakutia). Brothers were selected from this sample with a history of similar hearing and kidney impairments. For one of the sibs, a complete exome sequencing was performed, which resulted in the discovery of a new hemizygous mutation c.2375delA p.(Asp792fs) in exon 29 of the COL4A5 gene on the long arm of the X chromosome (Xq22). This mutation was also detected in sibling using PCR-RFLP analysis
Supporting agencies: Acknowledgment. The work was carried out within the framework of the State Assignment of the Ministry of Science and Higher Education of the Russian Federation (FSRG-2020-0016) and grant RFBR 20-015-00328_А
About the Authors
A. M. Cherdonova
M.K. Ammosov Northeastern Federal University
Russian Federation
Russian Federation
Cherdonova Alexandra Matveyevna – postgraduate student
N. A. Barashkov
Yakutsk Scientific Centre for Complex Medical Problems
Russian Federation
Russian Federation
Barashkov Nikolay Alekseevich – PhD in Biology, external researcher, head of the lab.
F. M. Teryutin
Yakutsk Scientific Centre for Complex Medical Problems
Russian Federation
Russian Federation
Teryutin Fedor Mikhailovich – PhD in Medicine, senior researcher
V. G. Pshennikova
Yakutsk Scientific Centre for Complex Medical Problems
Russian Federation
Russian Federation
Pshennikova Vera Gennadiyevna – PhD in Biology, external researcher, head of the lab.
T. V. Borisova
M.K. Ammosov Northeastern Federal University
Russian Federation
Russian Federation
Borisova TuyaraValeryevna – postgraduate student
A. A. Nikanorova
Yakutsk Scientific Centre for Complex Medical Problems
Russian Federation
Russian Federation
Nikanorova Alena Afanasyevna – researcher
A. V. Solovyov
M.K. Ammosov Northeastern Federal University
Russian Federation
Russian Federation
Romanov Georgy Prokopievich – researcher
G. P. Romanov
M.K. Ammosov Northeastern Federal University
Russian Federation
Russian Federation
Romanov Georgy Prokopievich – researcher
S. A. Fedorova
M.K. Ammosov Northeastern Federal University
Russian Federation
Russian Federation
Fedorova Sardana Arkadyevna – Doctor of Biology, chief researcher
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Review
For citations:
Cherdonova A.M., Barashkov N.A., Teryutin F.M., Pshennikova V.G., Borisova T.V., Nikanorova A.A., Solovyov A.V., Romanov G.P., Fedorova S.A. A novel mutation in the COL4A5 gene in the Yakut family with Alport syndrome. Yakut Medical Journal. 2022;(4):20-23. https://doi.org/10.25789/YMJ.2022.80.05
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