| Autor: |
Özyılmaz, Berk, Mercan, Gül Caner, Kırbıyık, Özgür, Özdemir, Taha Reşid, Özkara, Samira, Kaya, Özge Özer, Kutbay, Yaşar Bekir, Erdoğan, Kadri Murat, Güvenç, Merve Saka, Koç, Altuğ |
| Předmět: |
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| Zdroj: |
Turkish Archives of Otolaryngology / Türk Otolarengoloji Arsivi; Sep2019, Vol. 57 Issue 3, p140-148, 9p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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