| چکیده انگلیسی مقاله |
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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| نویسندگان مقاله |
| 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
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