| Autor: |
Markova, T. G., Alekseeva, N. N., Mironovich, O. L. |
| Předmět: |
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| Zdroj: |
Journal of Hearing Science; 2022, Vol. 12 Issue 1, p104-105, 2p |
| Abstrakt: |
Objectives: Hearing loss is the most frequent sensory disorder and is genetically heterogeneous. The most frequent cause of non-syndromic recessive hearing loss is biallelic pathogenic mutations in the GJB2 gene. 68% of congenital bilateral sensorineural hearing loss in the Russia identified in infancy are caused by mutations in GJB2 gene. Among other major causes of genetic hearing loss in different countries the STRC gene was also recognized. The rate of STRC pathogenic mutations reaches up to 5--13% in group of patients with mild-to-moderate hearing loss. Material and methods: We revealed and clinically examined 21 children and 4 adults with mutations in STRC gene, including 12 unrelated cases and 13 patients from 5 families. All children except of one had no mutations in GJB2 gene. One kid was the carrier of 35delG mutation. All children have been examined first time in the age before 6 and 8 years. Results: Our data emphasize that thresholds from 35 to 60 dB nHL at 0.5--4 kHz are common for mutations/ deletions of STRC gene. The phenotype of hearing loss appears to be mild-to-moderate. Stability of hearing thresholds during the entire period of observation is an impressive characteristic. Three children failed hearing screening based on OAE registration in maternity hospital, that indicates the congenital nature of hearing loss. Conclusions: It is concluded that in children with early revealed hearing loss the special approach is necessary which also includes consultation of parents on tactics and prognosis of the disease. Our results highlight the importance of the STRC gene as a major cause of mild-to-moderate hearing loss. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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