First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss
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 evaluatio...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayincilik
2019-09-01
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| Series: | Turkish Archives of Otorhinolaryngology |
| Subjects: | |
| Online Access: |
http://turkarchotolaryngol.net/archives/archive-detail/article-preview/first-line-molecular-genetic-evaluation-of-autosom/43080
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| _version_ | 1797911384032280576 |
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| author | Berk Özyılmaz Gül Caner Mercan Özgür Kırbıyık Taha Reşid Özdemir Samira Özkara Özge Özer Kaya Yaşar Bekir Kutbay Kadri Murat Erdoğan Merve Saka Güvenç Altuğ Koç |
| author_facet | Berk Özyılmaz Gül Caner Mercan Özgür Kırbıyık Taha Reşid Özdemir Samira Özkara Özge Özer Kaya Yaşar Bekir Kutbay Kadri Murat Erdoğan Merve Saka Güvenç Altuğ Koç |
| author_sort | Berk Özyılmaz |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T11:40:49Z |
| format | Article |
| id | doaj.art-66a97428e8c94324ac5de34e16d365bb |
| institution | Directory Open Access Journal |
| issn | 2667-7474 |
| language | English |
| last_indexed | 2024-04-10T11:40:49Z |
| publishDate | 2019-09-01 |
| publisher | Galenos Yayincilik |
| record_format | Article |
| series | Turkish Archives of Otorhinolaryngology |
| spelling | doaj.art-66a97428e8c94324ac5de34e16d365bb2023-02-15T16:17:34ZengGalenos YayincilikTurkish Archives of Otorhinolaryngology2667-74742019-09-0157314014810.5152/tao.2019.432013049054First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing LossBerk Özyılmaz0Gül Caner Mercan1Özgür Kırbıyık2Taha Reşid Özdemir3Samira Özkara4Özge Özer Kaya5Yaşar Bekir Kutbay6Kadri Murat Erdoğan7Merve Saka Güvenç8Altuğ Koç9 Genetic Diagnosis Center, University of Health Sciences, Tepecik Training and Research Hospital, İzmir, Turkey Department of Otolaryngology, University of Health Sciences, Tepecik Training and Research Hospital, İzmir, Turkey Genetic Diagnosis Center, University of Health Sciences, Tepecik Training and Research Hospital, İzmir, Turkey Genetic Diagnosis Center, University of Health Sciences, Tepecik Training and Research Hospital, İzmir, Turkey Department of Otolaryngology, University of Health Sciences, Tepecik Training and Research Hospital, İzmir, Turkey Genetic Diagnosis Center, University of Health Sciences, Tepecik Training and Research Hospital, İzmir, Turkey Genetic Diagnosis Center, University of Health Sciences, Tepecik Training and Research Hospital, İzmir, Turkey Genetic Diagnosis Center, University of Health Sciences, Tepecik Training and Research Hospital, İzmir, Turkey Genetic Diagnosis Center, University of Health Sciences, Tepecik Training and Research Hospital, İzmir, Turkey Genetic Diagnosis Center, University of Health Sciences, Tepecik Training and Research Hospital, İzmir, Turkey 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. http://turkarchotolaryngol.net/archives/archive-detail/article-preview/first-line-molecular-genetic-evaluation-of-autosom/43080 deafnesshearing lossgeneticsgjb2 |
| spellingShingle | Berk Özyılmaz Gül Caner Mercan Özgür Kırbıyık Taha Reşid Özdemir Samira Özkara Özge Özer Kaya Yaşar Bekir Kutbay Kadri Murat Erdoğan Merve Saka Güvenç Altuğ Koç First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss Turkish Archives of Otorhinolaryngology deafness hearing loss genetics gjb2 |
| title | First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss |
| title_full | First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss |
| title_fullStr | First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss |
| title_full_unstemmed | First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss |
| title_short | First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss |
| title_sort | first line molecular genetic evaluation of autosomal recessive non syndromic hearing loss |
| topic | deafness hearing loss genetics gjb2 |
| url |
http://turkarchotolaryngol.net/archives/archive-detail/article-preview/first-line-molecular-genetic-evaluation-of-autosom/43080
|
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