The Genetic Epidemiology Laboratory researchers (Prof. R.A. Zinchenko, D.Med.Sc., Head of the Laboratory) discovered a new molecular cause of hereditary hearing loss in the Chuvash population
Hereditary nonsyndromic sensorineural hearing loss is a disease in which hearing loss occurs due to lesions of the inner ear organs, the auditory nerve or the center in the brain that is responsible for sound perception, characterized by broad locus and allelic heterogeneity and different types of heredity. For the first time, the contribution of the GIPC3 gene to the development of autosomal recessive sensorineural hearing loss in Russian patients was shown. The GIPC3 gene encodes a protein involved in functioning of the inner ear sensory cells and spiral ganglion neurons. Mutations in this gene are associated with nonsyndromic sensorineural hearing loss type 15 (DFNB15). They analyzed DNA samples of 26 patients diagnosed with hereditary sensorineural hearing loss from 22 unrelated Chuvash families from the Republic of Chuvashia and healthy individuals. Whole exome sequencing (WES) and Sanger sequencing methods were used. It was shown that in 23% of Chuvash patients the homozygous variant NM_133261.2(GIPC3):c.245G>A (p.(N34S)) is the molecular cause of hereditary sensorineural hearing loss. Its frequency in healthy individuals in the Chuvash population was 1.1%.
Petrova N.V., Marakhonov A.V., Balinova N.V., Abrukova A.V., Konovalov F.A, Kutsev S.I., Zinchenko R.A. Genetic variant c.245A>G (p.Asn82Ser) in GIPC3 gene is a frequent cause of hereditary nonsyndromic sensorineural hearing loss in Chuvash population // Genes 2021, 12, 820.