Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period (Short Communication)

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BAZAZZADEGAN NILOOFAR; VAZEHAN RAHELEH; FADAEE MAHSA; FATTAHI ZOHREH; ABOLHASSANI AYDA; PARSIMEHR ELHAM; KALHOR ZAHRA; FARAJI ZONOOZ MEHRSHID; AHANGARI FATEMEH; DEHDAHSI SHIMA; SAMIEE Farshide; Jamali Payman; HABIBI HALEH; NOURIZADEH Younes; MAHDAVI Shokouh; BEHESHTIAN MARYAM; KARIMINEJAD ARIANA; Smith Richard J.H.; NAJMABADI HOSSEIN

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Journal Paper

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Journal: Iranian Journal of Public Health Year:2019 | Volume:48 | Issue:10 Page(s): 1910-1915

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Title

Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period (Short Communication)

Author(s)

Keywords

OtoSCOPE

Hereditary hearing loss

Novel variant

Known variant

Abstract

Background: Diagnosis of Hereditary hearing loss (HHL) as a heterogeneous disorder is very important especially in countries with high rates of consanguinity where the autosomal recessive pattern of inheritance is prevalent. Techniques such as next-generation sequencing, a comprehensive genetic test using targeted genomic enrichment and massively parallel sequencing (TGE + MPS), have made the diagnosis more cost-effective. The aim of this study was to determine HHL variants with comprehensive genetic testing in our country. Methods: Fifty GJB2 negative individuals with HHL were referred to the Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, one of the reference diagnostic genetic laboratories in Iran, during a 3-year period between 2014 and 2017. They were screened with the OtoSCOPE test, the targeted genomic enrichment and massively parallel sequencing (TGE + MPS) platform after a detailed history had been taken along with clinical evaluation. Results: Among 32 out of 50 GJB2 negative patients (64%), 34 known pathogenic and Novel variants were detected of which 16 (47%) were novel, identified in 10 genes of which the most prevalent were CDH23, MYO7A and MYO15A. Conclusion: These results provide a foundation from which to make appropriate recommendations for the use of comprehensive genetic testing in the evaluation of Iranian patients with Hereditary hearing loss.

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APA: Copy

BAZAZZADEGAN, NILOOFAR, VAZEHAN, RAHELEH, FADAEE, MAHSA, FATTAHI, ZOHREH, ABOLHASSANI, AYDA, PARSIMEHR, ELHAM, KALHOR, ZAHRA, FARAJI ZONOOZ, MEHRSHID, AHANGARI, FATEMEH, DEHDAHSI, SHIMA, SAMIEE, Farshide, Jamali, Payman, HABIBI, HALEH, NOURIZADEH, Younes, MAHDAVI, Shokouh, BEHESHTIAN, MARYAM, KARIMINEJAD, ARIANA, Smith, Richard J.H., & NAJMABADI, HOSSEIN. (2019). Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period (Short Communication). IRANIAN JOURNAL OF PUBLIC HEALTH, 48(10), 1910-1915. SID. https://sid.ir/paper/755010/en

Vancouver: Copy

BAZAZZADEGAN NILOOFAR, VAZEHAN RAHELEH, FADAEE MAHSA, FATTAHI ZOHREH, ABOLHASSANI AYDA, PARSIMEHR ELHAM, KALHOR ZAHRA, FARAJI ZONOOZ MEHRSHID, AHANGARI FATEMEH, DEHDAHSI SHIMA, SAMIEE Farshide, Jamali Payman, HABIBI HALEH, NOURIZADEH Younes, MAHDAVI Shokouh, BEHESHTIAN MARYAM, KARIMINEJAD ARIANA, Smith Richard J.H., NAJMABADI HOSSEIN. Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period (Short Communication). IRANIAN JOURNAL OF PUBLIC HEALTH[Internet]. 2019;48(10):1910-1915. Available from: https://sid.ir/paper/755010/en

IEEE: Copy

NILOOFAR BAZAZZADEGAN, RAHELEH VAZEHAN, MAHSA FADAEE, ZOHREH FATTAHI, AYDA ABOLHASSANI, ELHAM PARSIMEHR, ZAHRA KALHOR, MEHRSHID FARAJI ZONOOZ, FATEMEH AHANGARI, SHIMA DEHDAHSI, Farshide SAMIEE, Payman Jamali, HALEH HABIBI, Younes NOURIZADEH, Shokouh MAHDAVI, MARYAM BEHESHTIAN, ARIANA KARIMINEJAD, Richard J.H. Smith, and HOSSEIN NAJMABADI, “Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period (Short Communication),” IRANIAN JOURNAL OF PUBLIC HEALTH, vol. 48, no. 10, pp. 1910–1915, 2019, [Online]. Available: https://sid.ir/paper/755010/en

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