First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss
| العنوان: | First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss |
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| المؤلفون: | Merve Saka Guvenc, Gül Caner Mercan, Kadri Murat Erdoğan, Samira Özkara, Altug Koc, Ozge Ozer Kaya, Berk Ozyilmaz, Ozgur Kirbiyik, Taha Reşid Özdemir, Yasar B. Kutbay |
| المصدر: | Turkish Archives of Otorhinolaryngology, Vol 57, Iss 3, Pp 140-148 (2019) |
| بيانات النشر: | Galenos Yayinevi, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Genetics, 010504 meteorology & atmospheric sciences, business.industry, Sequence analysis, Hearing loss, lcsh:Surgery, lcsh:RD1-811, lcsh:Otorhinolaryngology, medicine.disease, lcsh:RF1-547, 01 natural sciences, Mutation (genetic algorithm), otorhinolaryngologic diseases, Etiology, Medicine, Sensorineural hearing loss, Multiplex ligation-dependent probe amplification, Restriction fragment length polymorphism, medicine.symptom, business, Gene, Original Investigation, 0105 earth and related environmental sciences |
| الوصف: | Objective The aim of this study is to investigate the efficiency of a first-line molecular genetic evaluation approach, in children with deafness. Methods Patients who were found to have sensorineural hearing loss by age-appropriate audiological tests were selected for the molecular genetic evaluation. The molecular genetic evaluation was carried out with GJB2 gene sequence analysis and mtDNA m.1555A>G mutation Restriction Fragment Length Polymorphism (RFLP) analysis. Additionally, in a small group of patients, hearing loss Multiplex Ligation-dependent Probe Amplification (MLPA) analysis was done out to identify the possible role of copy number changes. Results In this Turkish cohort, which included 104 index patients and 78 relatives, 33 (31.7%) had Pathogenic/Likely Pathogenic variants. One or more GJB2 sequence variants were identified in 46 (44.1%) of the 104 index patients. The homozygous c.35delG mutation by itself explained the etiology in 24% of our ARSNHL group. In one (5%) of the 20 patients of MLPA group, a hemizygous deletion in POU3F4 gene was detected. Conclusion In our Turkish cohort, we applied a first-line molecular genetic evaluation approach using GJB2 gene sequence analysis and mtDNA m.1555A>G RFLP analysis. This approach revealed the genetic etiology of 44.1% of our index patients. Additionaly, the results of hearing loss MLPA analysis revealed the limited role of copy number changes in this patient group. Furthermore, with a detailed genotype-phenotype association workup, 2 rare cases of Deafness with Palmoplantar Hyperkeratosis and Keratitis-Ichthyosis-Deafness syndrome were reported. |
| تدمد: | 2667-7474 2667-7466 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dcd48e1e1ed6a666c2e1690fcb000a4 https://doi.org/10.5152/tao.2019.4320 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....5dcd48e1e1ed6a666c2e1690fcb000a4 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 26677474 26677466 |
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