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International Journal of Pediatric Otorhinolaryngology published an article by the FSBI RCMG researchers

International Journal of Pediatric Otorhinolaryngology (Impact Factor 1.241, Q3) published an article by the researchers of the FSBI RCMG DNA-Diagnostics Laboratory (headed by A.V. Polyakov).

Clinical features of hearing loss caused by STRC gene deletions/mutations in Russian population

T.G.Markova, N.N.Alekseeva, O.L.Mironovich, N.M.Galeeva, M.R.Lalayants, E.A.Bliznetz, S.S.Chibisova, A.V.Polyakov, G.A.Tavartkiladze.

The publication discusses the results of long-standing collaboration of FSBI RCMG and FSBI Russian Research and Practical Center for Audiology and Hearing Prosthetics on research of molecular and genetic causes of nonsyndromic sensorineural hearing loss (NSHL) in Russia. They found the second most frequent genetic form of NSHL in the Russian Federation, caused by stereocylin gene mutations (STRC). The article provides a detailed clinical description of one of the world’s largest sample of patients with the STRC gene mutations (28 patients from 21 unrelated families from Russia). They found that patients with the STRC gene mutations were characterized by mild to moderate hearing loss, due to which a universal audiological screening often failed to discover it in the newborns. The obtained results set new tasks to optimize algorithms of early diagnosis and timely rehabilitation of patients with STRC.

International Journal of Pediatric Otorhinolaryngology

Volume 138, November 2020, 110247

https://www.sciencedirect.com/science/article/pii/S0165587620303906