Prevalence of 35delG mutation in GJB2 gene in the Moldovan population
Background: Guanine deletion 35delG in GJB2 exon 2 is the pathogenic mutation responsible for up to 70% of cases of congenital non-syndromic sensorineural hearing loss (NSHL) among Europeans. The early molecular diagnostic of hearing loss nature has become important while considering the cochlear im...
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| Format: | Article |
| Language: | English |
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Scientific Medical Association of Moldova
2020-10-01
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| Series: | The Moldovan Medical Journal |
| Subjects: | |
| Online Access: | http://moldmedjournal.md/wp-content/uploads/2020/10/moldovan-med-j-2020-63-6-buza-et-al-full-text.pdf |
| _version_ | 1819009167525937152 |
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| author | Anastasia Buza Sergiu Parii Cristina Butovscaia Daniela Galea-Abdusa Luminita Radulescu Ghenadie Curocichin |
| author_facet | Anastasia Buza Sergiu Parii Cristina Butovscaia Daniela Galea-Abdusa Luminita Radulescu Ghenadie Curocichin |
| author_sort | Anastasia Buza |
| collection | DOAJ |
| description | Background: Guanine deletion 35delG in GJB2 exon 2 is the pathogenic mutation responsible for up to 70% of cases of congenital non-syndromic sensorineural hearing loss (NSHL) among Europeans. The early molecular diagnostic of hearing loss nature has become important while considering the cochlear implants. The purpose of this study was to establish the frequency of 35delG deletion in GJB2 gene among patients with severe NSHL and its prevalence among Moldovan residents with normal hearing. Material and methods: 40 patients with congenital bilateral profound NSHL and 300 individuals with normal hearing were examined for deletion 35delG, by using Custom TaqMan SNP genotyping Assay. Results: 12 (30%) patients with homozygous genotype for 35delG mutation were identified, whereas 8 patients (20%) were heterozygous. The study reported 4 (1.33%) carriers of 35delG mutation among 300 Moldovan individuals with normal hearing. Conclusions: The present study results suggest a need for including the 35delG molecular testing into the national program of neonatal screening of hearing loss. Considerations on the genetic carrier testing should be made in genetic counseling and family planning. |
| first_indexed | 2024-12-21T00:52:04Z |
| format | Article |
| id | doaj.art-3851f907b2fd4dbe818687706dfd9244 |
| institution | Directory Open Access Journal |
| issn | 2537-6373 2537-6381 |
| language | English |
| last_indexed | 2024-12-21T00:52:04Z |
| publishDate | 2020-10-01 |
| publisher | Scientific Medical Association of Moldova |
| record_format | Article |
| series | The Moldovan Medical Journal |
| spelling | doaj.art-3851f907b2fd4dbe818687706dfd92442022-12-21T19:21:23ZengScientific Medical Association of MoldovaThe Moldovan Medical Journal2537-63732537-63812020-10-01636333510.5281/zenodo.4028375Prevalence of 35delG mutation in GJB2 gene in the Moldovan populationAnastasia Buza0https://orcid.org/0000-0002-0955-1875Sergiu Parii1https://orcid.org/0000-0003-2229-4444Cristina Butovscaia2https://orcid.org/0000-0003-2083-9164Daniela Galea-Abdusa3https://orcid.org/0000-0002-8041-9308Luminita Radulescu4Ghenadie Curocichin5https://orcid.org/0000-0003-0613-4360Laboratory of Genetics, Nicolae Testemitanu State University of Medicine and Pharmacy, Chisinau, the Republic of Moldova Center for Drug Research, Nicolae Testemitanu State University of Medicine and Pharmacy, Chisinau, the Republic of Moldova Laboratory of Genetics, Nicolae Testemitanu State University of Medicine and Pharmacy, Chisinau, the Republic of Moldova Laboratory of Genetics, Nicolae Testemitanu State University of Medicine and Pharmacy, Chisinau, the Republic of Moldova Grigore T. PopaUniversity of Medicine and Pharmacy, Iasi, RomaniaLaboratory of Genetics, Nicolae Testemitanu State University of Medicine and Pharmacy, Chisinau, the Republic of Moldova Background: Guanine deletion 35delG in GJB2 exon 2 is the pathogenic mutation responsible for up to 70% of cases of congenital non-syndromic sensorineural hearing loss (NSHL) among Europeans. The early molecular diagnostic of hearing loss nature has become important while considering the cochlear implants. The purpose of this study was to establish the frequency of 35delG deletion in GJB2 gene among patients with severe NSHL and its prevalence among Moldovan residents with normal hearing. Material and methods: 40 patients with congenital bilateral profound NSHL and 300 individuals with normal hearing were examined for deletion 35delG, by using Custom TaqMan SNP genotyping Assay. Results: 12 (30%) patients with homozygous genotype for 35delG mutation were identified, whereas 8 patients (20%) were heterozygous. The study reported 4 (1.33%) carriers of 35delG mutation among 300 Moldovan individuals with normal hearing. Conclusions: The present study results suggest a need for including the 35delG molecular testing into the national program of neonatal screening of hearing loss. Considerations on the genetic carrier testing should be made in genetic counseling and family planning.http://moldmedjournal.md/wp-content/uploads/2020/10/moldovan-med-j-2020-63-6-buza-et-al-full-text.pdfgjb235delg mutationnon-syndromic deafness |
| spellingShingle | Anastasia Buza Sergiu Parii Cristina Butovscaia Daniela Galea-Abdusa Luminita Radulescu Ghenadie Curocichin Prevalence of 35delG mutation in GJB2 gene in the Moldovan population The Moldovan Medical Journal gjb2 35delg mutation non-syndromic deafness |
| title | Prevalence of 35delG mutation in GJB2 gene in the Moldovan population |
| title_full | Prevalence of 35delG mutation in GJB2 gene in the Moldovan population |
| title_fullStr | Prevalence of 35delG mutation in GJB2 gene in the Moldovan population |
| title_full_unstemmed | Prevalence of 35delG mutation in GJB2 gene in the Moldovan population |
| title_short | Prevalence of 35delG mutation in GJB2 gene in the Moldovan population |
| title_sort | prevalence of 35delg mutation in gjb2 gene in the moldovan population |
| topic | gjb2 35delg mutation non-syndromic deafness |
| url | http://moldmedjournal.md/wp-content/uploads/2020/10/moldovan-med-j-2020-63-6-buza-et-al-full-text.pdf |
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