First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss

MERCAN, Gül Caner; ÖZDEMİR, Taha Reşid; Kutbay, Yasar; KOÇ, Altuğ; OZYILMAZ, Berk; ÖZKARA, Samira; Erdogan, Kadri Murat; KIRBIYIK, ÖZGÜR; ÖZER KAYA, Özge; SAKA GÜVENÇ, Merve

doi:10.5152/tao.2019.4320

First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss

Turkish archives of otorhinolaryngology

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Yıl: 2019 Cilt: 57 Sayı: 3 Sayfa Aralığı: 140 - 148 Metin Dili: İngilizce DOI: 10.5152/tao.2019.4320 İndeks Tarihi: 28-05-2020

First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss

Öz:

Objective: The aim of this study is to investigate theefficiency of a first-line molecular genetic evaluationapproach, in children with deafness.Methods: Patients who were found to have sensorineural hearing loss by age-appropriate audiologicaltests were selected for the molecular genetic evaluation. The molecular genetic evaluation was carriedout with GJB2 gene sequence analysis and mtDNAm.1555A>G mutation Restriction Fragment LengthPolymorphism (RFLP) analysis. Additionally, in asmall group of patients, hearing loss Multiplex Ligation-dependent Probe Amplification (MLPA) analysis was done out to identify the possible role of copynumber changes.Results: In this Turkish cohort, which included 104index patients and 78 relatives, 33 (31.7%) had Pathogenic/Likely Pathogenic variants. One or more GJB2sequence variants were identified in 46 (44.1%) of the104 index patients. The homozygous c.35delG mutation by itself explained the etiology in 24% of ourARSNHL group. In one (5%) of the 20 patients ofMLPA group, a hemizygous deletion in POU3F4gene was detected.Conclusion: In our Turkish cohort, we applied afirst-line molecular genetic evaluation approachusing GJB2 gene sequence analysis and mtDNAm.1555A>G RFLP analysis. This approach revealedthe genetic etiology of 44.1% of our index patients.Additionaly, the results of hearing loss MLPA analysis revealed the limited role of copy number changesin this patient group. Furthermore, with a detailedgenotype-phenotype association workup, 2 rare casesof Deafness with Palmoplantar Hyperkeratosis andKeratitis-Ichthyosis-Deafness syndrome were reported.

Anahtar Kelime:

Konular: Kulak, Burun, Boğaz

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık

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APA	OZYILMAZ B, MERCAN G, KIRBIYIK Ö, ÖZDEMİR T, ÖZKARA S, ÖZER KAYA Ö, Kutbay Y, Erdogan K, SAKA GÜVENÇ M, KOÇ A (2019). First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss. , 140 - 148. 10.5152/tao.2019.4320
Chicago	OZYILMAZ Berk,MERCAN Gül Caner,KIRBIYIK ÖZGÜR,ÖZDEMİR Taha Reşid,ÖZKARA Samira,ÖZER KAYA Özge,Kutbay Yasar,Erdogan Kadri Murat,SAKA GÜVENÇ Merve,KOÇ Altuğ First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss. (2019): 140 - 148. 10.5152/tao.2019.4320
MLA	OZYILMAZ Berk,MERCAN Gül Caner,KIRBIYIK ÖZGÜR,ÖZDEMİR Taha Reşid,ÖZKARA Samira,ÖZER KAYA Özge,Kutbay Yasar,Erdogan Kadri Murat,SAKA GÜVENÇ Merve,KOÇ Altuğ First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss. , 2019, ss.140 - 148. 10.5152/tao.2019.4320
AMA	OZYILMAZ B,MERCAN G,KIRBIYIK Ö,ÖZDEMİR T,ÖZKARA S,ÖZER KAYA Ö,Kutbay Y,Erdogan K,SAKA GÜVENÇ M,KOÇ A First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss. . 2019; 140 - 148. 10.5152/tao.2019.4320
Vancouver	OZYILMAZ B,MERCAN G,KIRBIYIK Ö,ÖZDEMİR T,ÖZKARA S,ÖZER KAYA Ö,Kutbay Y,Erdogan K,SAKA GÜVENÇ M,KOÇ A First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss. . 2019; 140 - 148. 10.5152/tao.2019.4320
IEEE	OZYILMAZ B,MERCAN G,KIRBIYIK Ö,ÖZDEMİR T,ÖZKARA S,ÖZER KAYA Ö,Kutbay Y,Erdogan K,SAKA GÜVENÇ M,KOÇ A "First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss." , ss.140 - 148, 2019. 10.5152/tao.2019.4320
ISNAD	OZYILMAZ, Berk vd. "First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss". (2019), 140-148. https://doi.org/10.5152/tao.2019.4320

APA	OZYILMAZ B, MERCAN G, KIRBIYIK Ö, ÖZDEMİR T, ÖZKARA S, ÖZER KAYA Ö, Kutbay Y, Erdogan K, SAKA GÜVENÇ M, KOÇ A (2019). First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss. Turkish archives of otorhinolaryngology , 57(3), 140 - 148. 10.5152/tao.2019.4320
Chicago	OZYILMAZ Berk,MERCAN Gül Caner,KIRBIYIK ÖZGÜR,ÖZDEMİR Taha Reşid,ÖZKARA Samira,ÖZER KAYA Özge,Kutbay Yasar,Erdogan Kadri Murat,SAKA GÜVENÇ Merve,KOÇ Altuğ First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss. Turkish archives of otorhinolaryngology 57, no.3 (2019): 140 - 148. 10.5152/tao.2019.4320
MLA	OZYILMAZ Berk,MERCAN Gül Caner,KIRBIYIK ÖZGÜR,ÖZDEMİR Taha Reşid,ÖZKARA Samira,ÖZER KAYA Özge,Kutbay Yasar,Erdogan Kadri Murat,SAKA GÜVENÇ Merve,KOÇ Altuğ First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss. Turkish archives of otorhinolaryngology , vol.57, no.3, 2019, ss.140 - 148. 10.5152/tao.2019.4320
AMA	OZYILMAZ B,MERCAN G,KIRBIYIK Ö,ÖZDEMİR T,ÖZKARA S,ÖZER KAYA Ö,Kutbay Y,Erdogan K,SAKA GÜVENÇ M,KOÇ A First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss. Turkish archives of otorhinolaryngology . 2019; 57(3): 140 - 148. 10.5152/tao.2019.4320
Vancouver	OZYILMAZ B,MERCAN G,KIRBIYIK Ö,ÖZDEMİR T,ÖZKARA S,ÖZER KAYA Ö,Kutbay Y,Erdogan K,SAKA GÜVENÇ M,KOÇ A First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss. Turkish archives of otorhinolaryngology . 2019; 57(3): 140 - 148. 10.5152/tao.2019.4320
IEEE	OZYILMAZ B,MERCAN G,KIRBIYIK Ö,ÖZDEMİR T,ÖZKARA S,ÖZER KAYA Ö,Kutbay Y,Erdogan K,SAKA GÜVENÇ M,KOÇ A "First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss." Turkish archives of otorhinolaryngology , 57, ss.140 - 148, 2019. 10.5152/tao.2019.4320
ISNAD	OZYILMAZ, Berk vd. "First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss". Turkish archives of otorhinolaryngology 57/3 (2019), 140-148. https://doi.org/10.5152/tao.2019.4320