Section: 
Otiology
OtiologyRecessive hearing loss 16 in routine practice of otolaryngologist
T. G. Markova (1), Yu. A. Bandura (2)
(1) Saint Petersburg Research Institute of Ear, Throat, Nose and Speech, Saint Petersburg, 190013, Russian Federation, (1), (2) Sverzhevskiy Otorhinolaryngology Healthcare Research Institute, Moscow, 117152, Russian Federation, (1) Russian Medical Academy for Continuous Professional Training, Moscow, 125993, Russian Federation
UDK: УДК 616.28-009-056.7
DOI: https://doi.org/10.18692/1810-4800-2025-2-76-80
ABSTRACT
Abstract. Congenital hearing loss is one of the most common pathologies detected during newborn hearing screening, in 80% of cases it has a hereditary etiology. Mutations in the GJB2 gene are the cause of more than 50% of cases of pre-speech recessive hearing loss of different degree. Mutations in the STRC gene are the second most common in the group of mild to moderate bilateral hearing loss. Mutations in the STRC gene lead to hereditary recessive nonsyndromic hearing loss 16 (DFNB16, OMIM 603720). In DFNB16, stereocilin protein synthesis is disrupted, which disrupts the connection of the outer hair cells with the tectorial membrane and changes their function. Hearing impairment in this form manifests itself from birth as mild to moderate bilateral sensorineural hearing loss. Most studies confirm the stability of patients’ hearing thresholds over a long period of observation. A clinical case of a child with congenital bilateral sensorineural recessive hearing loss 16—combined with frequent bilateral exudative otitis media, which led to a mixed form of hearing loss and as a result caused difficulty in making a final diagnosis—is presented. In this regard, it is recommended not to neglect referring patients to geneticist consultation. Establishing the true cause of hearing loss indicates the prognosis of the disease and the necessary tactics for patient management.
Publication date:
21.04.2025
Keywords:
congenital hearing loss, recessive hearing loss 16, DFNB16, stereocilin, bilateral sensorineural hearing loss For citation:
Markova T. G., Bandura Yu. A. Recessive hearing loss 16 in routine practice of otolaryngologist. Russian Otorhinolaryngology. 2025;24(2):76-80. (In Russ.) https://doi.org/10.18692/1810-4800-2025-2-76-80