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

  • Niloofar BAZAZZADEGAN Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
  • Raheleh VAZEHAN Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran
  • Mahsa FADAEE Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran
  • Zohreh FATTAHI Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
  • Ayda ABOLHASSANI Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran
  • Elham PARSIMEHR Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran
  • Zahra KALHOR Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran
  • Mehrshid FARAJI ZONOOZ Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran
  • Fatemeh AHANGARI Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran
  • Shima DEHDAHSI Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran
  • Farshide SAMIEE Genetic Medical Counseling Center, Qazvin, Iran
  • Payman JAMALI Shahrood Genetic Counseling Center, Welfare Office, Shahrood, Iran
  • Haleh HABIBI Genetic Counseling Center, Family Health Clinic, Mobasher Hospital, Hamedan, Iran
  • Younes NOURIZADEH Genetic Counseling Center Welfare Organization, Ilam, Iran
  • Shokouh MAHDAVI Welfare Institution Genetic Office, Tehran, Iran
  • Maryam BEHESHTIAN Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
  • Ariana KARIMINEJAD Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran
  • Richard JH SMITH Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Laboratories, Carver Col-lege of Medicine, University of Iowa, Iowa City, IA, USA
  • Hossein NAJMABADI Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran
OtoSCOPE, Hereditary hearing loss, Novel variant, Known variant


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.


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