Academic Journal
Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population
| العنوان: | Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population |
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| المؤلفون: | A Morgan, S. Lenarduzzi, B. Spedicati, E. Cattaruzzi, F. M. Murru, G. Pelliccione, D. Mazzà, M. Zollino, C. Graziano, U. Ambrosetti, M. Seri, F. Faletra, G. Girotto |
| المساهمون: | A. Morgan, S. Lenarduzzi, B. Spedicati, E. Cattaruzzi, F.M. Murru, G. Pelliccione, D. Mazzà, M. Zollino, C. Graziano, U. Ambrosetti, M. Seri, F. Faletra, G. Girotto |
| بيانات النشر: | MDPI |
| سنة النشر: | 2020 |
| المجموعة: | The University of Milan: Archivio Istituzionale della Ricerca (AIR) |
| مصطلحات موضوعية: | hereditary hearing lo, MLPA, whole exome sequencing, molecular diagnosis, Settore MED/32 - Audiologia |
| الوصف: | Hearing loss (HL), both syndromic (SHL) and non-syndromic (NSHL), is the most common sensory disorder, aecting ~460 million people worldwide. More than 50% of the congenital/childhood cases are attributable to genetic causes, highlighting the importance of genetic testing in this class of disorders. Here we applied a multi-step strategy for the molecular diagnosis of HL in 125 patients, which included: (1) an accurate clinical evaluation, (2) the analysis of GJB2, GJB6, and MT-RNR1 genes, (3) the evaluation STRC-CATSPER2 and OTOA deletions via Multiplex Ligation Probe Amplification (MLPA), (4) Whole Exome Sequencing (WES) in patients negative to steps 2 and 3. Our approach led to the characterization of 50% of the NSHL cases, confirming both the relevant role of the GJB2 (20% of cases) and STRC deletions (6% of cases), and the high genetic heterogeneity of NSHL. Moreover, due to the genetic findings, 4% of apparent NSHL patients have been re-diagnosed as SHL. Finally, WES characterized 86% of SHL patients, supporting the role of already know disease-genes. Overall, our approach proved to be ecient in identifying the molecular cause of HL, providing essential information for the patients’ future management. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/wos/WOS:000593345700001; volume:11; issue:11; numberofpages:16; journal:GENES & DEVELOPMENT; http://hdl.handle.net/2434/822862; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85093943758 |
| DOI: | 10.3390/genes11111237 |
| الاتاحة: | http://hdl.handle.net/2434/822862 https://doi.org/10.3390/genes11111237 |
| Rights: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.9F6F2BE8 |
| قاعدة البيانات: | BASE |
| DOI: | 10.3390/genes11111237 |
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