GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS’ SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION
Objective: Hearing loss (HL) is one of the most prevalent chronic conditions in children and has consequences in speech, language, education, and social functioning which impede the quality of life. Due to the major involvement of the genetic factors in HL, especially non-syndromic HL (NSHL), geneti...
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Istanbul University Press
2022-03-01
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| Series: | İstanbul Tıp Fakültesi Dergisi |
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| Online Access: | https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/75CDC79D85D949E3AF3FFBA43E15B97D |
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| author | Çağrı Güleç Ayça Dilruba Aslanger Volkan Karaman Bernd Wollnik Fatih Tepgeç Hülya Kayserili Karabey Zehra Oya Uyguner |
| author_facet | Çağrı Güleç Ayça Dilruba Aslanger Volkan Karaman Bernd Wollnik Fatih Tepgeç Hülya Kayserili Karabey Zehra Oya Uyguner |
| author_sort | Çağrı Güleç |
| collection | DOAJ |
| description | Objective: Hearing loss (HL) is one of the most prevalent chronic conditions in children and has consequences in speech, language, education, and social functioning which impede the quality of life. Due to the major involvement of the genetic factors in HL, especially non-syndromic HL (NSHL), genetic diagnosis and genetic counseling have a major impact on early management of the affected individuals and their families. Herein, we report the GJB2 gene variants and their frequencies in NSHL cohort at a tertiary health center between 2002-2021 to contribute for the future genetic counseling of Turkish NSHL patients. Materials and Methods: Two exons of the GJB2 gene were amplified in 402 NSHL patients by two separate PCR reactions and sequenced using the Sanger technique. Results: We found 13 different GJB2 variants in 35% (141/402) of the patients with NSHL. 53.9% were homozygous and 33.3% were compound heterozygous for the most common (59.21%) variant, c.35delG. Approximately 13% of the patients were found to carry the variants in the heterozygous state. The most frequent GJB2 variant c.35delG was followed by c.71G>A (6.38%), c.-23+1G>A (3.54%) and c.233delG (2.48%). We found heterozygous p.Asp50Glu (c.150C>A) alteration in four of eight patients with keratitis, ichthyosis, deafness (KID) and palmoplantar keratoderma (PPK) syndrome. Conclusion: Our results further emphasize the well-known prevalance of the GJB2 c.35delG alteration being the most predominant variant in the Turkish NSHL patients. The high rate of mono-allelic state could be considered as coincidental due to high allelic heterogeneity of NSHL, or possibly suggestive for digenic inheritance. |
| format | Article |
| id | doaj-art-bfb7f44ce4664e21a196e30ec0aa706d |
| institution | OA Journals |
| issn | 1305-6441 |
| language | English |
| publishDate | 2022-03-01 |
| publisher | Istanbul University Press |
| record_format | Article |
| series | İstanbul Tıp Fakültesi Dergisi |
| spelling | doaj-art-bfb7f44ce4664e21a196e30ec0aa706d2025-08-20T02:15:19ZengIstanbul University Pressİstanbul Tıp Fakültesi Dergisi1305-64412022-03-0185216216910.26650/IUITFD.1011501123456GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS’ SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATIONÇağrı Güleç0https://orcid.org/0000-0002-1256-9574Ayça Dilruba Aslanger1https://orcid.org/0000-0003-1770-1762Volkan Karaman2https://orcid.org/0000-0001-8777-3548Bernd Wollnik3Fatih Tepgeç4https://orcid.org/0000-0001-8413-6949Hülya Kayserili Karabey5https://orcid.org/0000-0003-0376-499XZehra Oya Uyguner6https://orcid.org/0000-0002-2035-4338İstanbul Üniversitesi, İstanbul, Türkiyeİstanbul Üniversitesi, İstanbul, Türkiyeİstanbul Üniversitesi, İstanbul, Türkiyeİstanbul Üniversitesi, İstanbul, Türkiyeİstanbul Üniversitesi, İstanbul, Türkiyeİstanbul Üniversitesi, İstanbul, Türkiyeİstanbul Üniversitesi, İstanbul, TürkiyeObjective: Hearing loss (HL) is one of the most prevalent chronic conditions in children and has consequences in speech, language, education, and social functioning which impede the quality of life. Due to the major involvement of the genetic factors in HL, especially non-syndromic HL (NSHL), genetic diagnosis and genetic counseling have a major impact on early management of the affected individuals and their families. Herein, we report the GJB2 gene variants and their frequencies in NSHL cohort at a tertiary health center between 2002-2021 to contribute for the future genetic counseling of Turkish NSHL patients. Materials and Methods: Two exons of the GJB2 gene were amplified in 402 NSHL patients by two separate PCR reactions and sequenced using the Sanger technique. Results: We found 13 different GJB2 variants in 35% (141/402) of the patients with NSHL. 53.9% were homozygous and 33.3% were compound heterozygous for the most common (59.21%) variant, c.35delG. Approximately 13% of the patients were found to carry the variants in the heterozygous state. The most frequent GJB2 variant c.35delG was followed by c.71G>A (6.38%), c.-23+1G>A (3.54%) and c.233delG (2.48%). We found heterozygous p.Asp50Glu (c.150C>A) alteration in four of eight patients with keratitis, ichthyosis, deafness (KID) and palmoplantar keratoderma (PPK) syndrome. Conclusion: Our results further emphasize the well-known prevalance of the GJB2 c.35delG alteration being the most predominant variant in the Turkish NSHL patients. The high rate of mono-allelic state could be considered as coincidental due to high allelic heterogeneity of NSHL, or possibly suggestive for digenic inheritance.https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/75CDC79D85D949E3AF3FFBA43E15B97Dsensorineural hearing lossgjb2 genec.35delg alterationmutation frequency |
| spellingShingle | Çağrı Güleç Ayça Dilruba Aslanger Volkan Karaman Bernd Wollnik Fatih Tepgeç Hülya Kayserili Karabey Zehra Oya Uyguner GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS’ SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION İstanbul Tıp Fakültesi Dergisi sensorineural hearing loss gjb2 gene c.35delg alteration mutation frequency |
| title | GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS’ SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION |
| title_full | GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS’ SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION |
| title_fullStr | GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS’ SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION |
| title_full_unstemmed | GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS’ SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION |
| title_short | GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS’ SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION |
| title_sort | gjb2 related non syndromic hearing loss variants spectrum and their frequency in turkish population |
| topic | sensorineural hearing loss gjb2 gene c.35delg alteration mutation frequency |
| url | https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/75CDC79D85D949E3AF3FFBA43E15B97D |
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