Author/Authors :
BAZAZZADEGAN, Niloofar University of Social Welfare and Rehabilitation Sciences, Tehran , VAZEHAN, Raheleh Graduate , FADAEE, Mahsa Graduate , FATTAHI, Zohreh University of Social Welfare and Rehabilitation Sciences, Tehran , ABOLHASSANI, Ayda Graduate , PARSIMEHR, Elham Graduate , KALHOR, Zahra Graduate , FARAJI ZONOOZ, Mehrshid Graduate , AHANGARI, Fatemeh Graduate , DEHDAHSI, Shima Graduate , SAMIEE, Farshide Graduate , JAMALI, Payman Graduate , HABIBI, Haleh Mobasher Hospital, Hamedan , NOURIZADEH, Younes Graduate , MAHDAVI, Shokouh Graduate , BEHESHTIAN, Maryam University of Social Welfare and Rehabilitation Sciences, Tehran , KARIMINEJAD, Ariana Graduate , JH SMITH, Richard Department of Otolaryngology-Head and Neck Surgery - Molecular Otolaryngology & Renal Research Laboratories - Carver College of Medicine - University of Iowa - Iowa City, USA , NAJMABADI, Hossein Graduate
Abstract :
Background: Diagnosis of hereditary hearing loss (HHL) as a heterogeneous disorder is very important espe-cially in countries with high rates of consanguinity where the autosomal recessive pattern of inheritance is preva-lent. Techniques such as next-generation sequencing, a comprehensive genetic test using targeted genomic en-richment 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 de-tected 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.
Keywords :
OtoSCOPE , Hereditary hearing loss , Novel variant , Known variant
