학술논문
Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period.
Document Type
Academic Journal
Author
Bazazzadegan N; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Vazehan R; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.; Fadaee M; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.; Fattahi Z; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Abolhassani A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.; Parsimehr E; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.; Kalhor Z; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.; Faraji Zonooz M; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.; Ahangari F; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.; Dehdahsi S; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.; Samiee F; Genetic Medical Counseling Center, Qazvin, Iran.; Jamali P; Shahrood Genetic Counseling Center, Welfare Office, Shahrood, Iran.; Habibi H; Genetic Counseling Center, Family Health Clinic, Mobasher Hospital, Hamedan, Iran.; Nourizadeh Y; Genetic Counseling Center Welfare Organization, Ilam, Iran.; Mahdavi S; Welfare Institution Genetic Office, Tehran, Iran.; Beheshtian M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.; Smith RJ; Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; Najmabadi H; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
Source
Publisher: Anjuman-i Bihdāsht-i Īrān Country of Publication: Iran NLM ID: 7505531 Publication Model: Print Cited Medium: Print ISSN: 2251-6085 (Print) Linking ISSN: 22516085 NLM ISO Abbreviation: Iran J Public Health Subsets: PubMed not MEDLINE
Subject
Language
English
ISSN
2251-6085
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.
Competing Interests: Conflict of interest The authors declare that there is no conflict of interests.
(Copyright© Iranian Public Health Association & Tehran University of Medical Sciences.)
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.
Competing Interests: Conflict of interest The authors declare that there is no conflict of interests.
(Copyright© Iranian Public Health Association & Tehran University of Medical Sciences.)