GJB2 Gene Testing, Etiologic Diagnosis and Genetic Counseling in Romanian Persons With Prelingual Hearing Loss
| العنوان: | GJB2 Gene Testing, Etiologic Diagnosis and Genetic Counseling in Romanian Persons With Prelingual Hearing Loss |
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| المؤلفون: | Adriana Stan, Dragos T. Stefanescu, Lorand Savu, Cristina Dragomir, Codrut Sarafoleanu, Emilia Severin |
| المصدر: | International Journal of Clinical Pediatrics. 4:121-126 |
| بيانات النشر: | Elmer Press, Inc., 2015. |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | Genetics, education.field_of_study, Mutation, medicine.diagnostic_test, Hearing loss, business.industry, Genetic counseling, Population, Gene mutation, medicine.disease_cause, DNA sequencing, medicine, Allelic heterogeneity, medicine.symptom, education, business, Genetic testing |
| الوصف: | Background: Nowadays, molecular genetic tests provide insights into the etiologic diagnosis of hearing loss (HL). Specific gene mutations are known to cause sensorineural HL of early onset. Previously published studies showed the allelic heterogeneity of GJB2 gene as main genetic cause of isolated congenital HL. The aims of the present study were to provide an extended and updated spectrum of mutations in GJB2 gene and to identify the most prevalent mutations in the Romanian population for testing prevention strategy in people with sensorineural HL of early onset. Methods: To overcome our aims, we used clinical data from 125 unrelated persons with congenital HL and performed ARMS-PCR and DNA sequencing techniques for detection of known mutations or identification of mutations within GJB2 gene. Results: The most prevalent mutation was c.35delG found in both homozygotic and heterozygotic forms. The second mutant allele was c.71G>A (p.W24X) found in homo- or heterozygotic forms as well, followed by c.-23+1G>A and c.380G>A (p.R127H) mutations with lower frequencies. Conclusion: The study reveals the c.35delG mutation as having the highest prevalence, further highlights the genetic background of congenital HL in a local population, and supports improvement of genetic testing such as newborn and carrier screening on which to base genetic counseling services. Int J Clin Pediatr. 2015;4(1):121-126 doi: http://dx.doi.org/10.14740/ijcp194w |
| تدمد: | 1927-1263 1927-1255 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::02ad1d5158c10ed09b5e5f311b7f660f https://doi.org/10.14740/ijcp194w |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi...........02ad1d5158c10ed09b5e5f311b7f660f |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19271263 19271255 |
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