Clear and Dark in the Genetics of NonsyndromicSensorineural Hearing Loss in the Childhood Population of Argentina
Abstract: Non-syndromicsensorineural hearing loss (NSSHL) is the most common sensory disorder affecting approximately 460 million people worldwide. More than 50% of congenital/childhood cases are attributable to genetic causes, which highlights the importance of genetic testing in this cla...
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| Autores principales: | , , , , |
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| Formato: | Artículo revista |
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Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
2021
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| Acceso en línea: | https://revistas.unc.edu.ar/index.php/med/article/view/34880 |
| Aporte de: |
| Sumario: | Abstract:
Non-syndromicsensorineural hearing loss (NSSHL) is the most common sensory disorder affecting approximately 460 million people worldwide. More than 50% of congenital/childhood cases are attributable to genetic causes, which highlights the importance of genetic testing in this class of disorders. Here we apply a multi-step strategy for the molecular diagnosis of HNSNS in 125 patients, which included: (1) a clinical auditory evaluation of the patient, (2) molecular analysis of the OTOF, GJB2, GJB6, and MT-RNR1 genes, and (3) Whole exome sequencing (SEC) of the GJB2 gene in step 2 negative patients. Our approach led to the characterization of 50% of NSHL cases, confirming both the relevant role of mutations in the GJB2 genes (20% of cases) and OTOF (6% of cases), such as the high genetic heterogeneity of HNSNS. Furthermore, due to genetic findings, 4% of HNSNS patients have been re-diagnosed with NSSHL and auditory neuropathy. Finally, the SEC characterized 68% of patients with NSSHL, supporting the role of known disease genes. Overall, our approach proved effective in identifying |
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