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
Keywords: OtoSCOPE; Hereditary hearing loss; Novel variant; Known variant

Abstract

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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Published
2019-10-05
How to Cite
1.
BAZAZZADEGAN N, VAZEHAN R, FADAEE M, FATTAHI Z, ABOLHASSANI A, PARSIMEHR E, KALHOR Z, FARAJI ZONOOZ M, AHANGARI F, DEHDAHSI S, SAMIEE F, JAMALI P, HABIBI H, NOURIZADEH Y, MAHDAVI S, BEHESHTIAN M, KARIMINEJAD A, SMITH RJ, NAJMABADI H. Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period. Iran J Public Health. 48(10):1910-1915.
Section
Short Communication(s)