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Prognostic value of a genetic test in the diagnosis of hereditary hearing loss DFNB16
https://doi.org/10.25557/2073-7998.2025.09.69-72
Abstract
Introduction. Mutations in the STRC gene are the second main cause of congenital bilateral mild to moderate hearing loss after mutations in the GJB2 gene.
Objective: to assess the prevalence of the autosomal recessive form of DFNB16, medical history and results of audiological examination in children with mutations in the STRC gene.
Methods. Analysis of medical records of children born between 2008 and 2023, registered at the children’s audiological center, audiological and otolaryngological examination, analysis of the results of genetic studies.
Results. Medical records of 1256 children with bilateral hearing loss of I and II degrees were analyzed. Genetic examination was performed on 540 children (43%). In this group, mutations in the GJB2 gene were confirmed in 44% of the examined patients, in the STRC genein 8%, in the USH2A gene – in 2%. The median age of children with DFNB16 at the initial visit to an audiologist was 48 months. 50% of children «failed» the hearing screening, 30% had the result «passed», and in 20% of cases, screening in the maternity hospital was not performed. According to the initial tonal threshold audiometry, the average hearing threshold at frequencies of 0.5-4 kHz was 45.8 dB, during the repeated examination – 42.8 dB.
Conclusions. DFNB16 occurs in 8% of cases among children with mild to moderate bilateral sensorineural hearing loss. The presence of concomitant ENT pathology increases the average age of contacting an audiologist and conducting genetic studies.
Keywords
Supporting agencies: The study was not supported by sponsorship.
About the Authors
T. G. Markova
L.I. Sverzhevskiy Otorhinolaryngology Healthcare Research Institute; Russian Medical Academy for Continuous Professional Training; Saint Petersburg Research Institute of Ear, Throat, Nose and Speech
Russian Federation
Russian Federation
9/10, Vernadskogo st., Moscow, 117152; 2/1, Barrikadnaya st., Moscow, 125993; 9, Bronitskaya st., Saint Petersburg, 190013
Yu. A. Bandura
L.I. Sverzhevskiy Otorhinolaryngology Healthcare Research Institute
Russian Federation
Russian Federation
9/10, Vernadskogo st., Moscow, 117152
S. S. Chibisova
L.I. Sverzhevskiy Otorhinolaryngology Healthcare Research Institute
Russian Federation
Russian Federation
9/10, Vernadskogo st., Moscow, 117152
E. R. Tsigankova
L.I. Sverzhevskiy Otorhinolaryngology Healthcare Research Institute
Russian Federation
Russian Federation
9/10, Vernadskogo st., Moscow, 117152
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Review
For citations:
Markova T.G., Bandura Yu.A., Chibisova S.S., Tsigankova E.R. Prognostic value of a genetic test in the diagnosis of hereditary hearing loss DFNB16. Medical Genetics. 2025;24(9):69-72. (In Russ.) https://doi.org/10.25557/2073-7998.2025.09.69-72
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