Journal article
BriefReport of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period
Iranian journal of public health, Vol.48(10), pp.1910-1915
10/01/2019
PMCID: PMC6908923
PMID: 31850270
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.
Details
- Title: Subtitle
- BriefReport of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period
- Creators
- Niloofar Bazazzadegan - Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranRaheleh Vazehan - Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, IranMahsa Fadaee - Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, IranZohreh Fattahi - Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranAyda Abolhassani - Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, IranElham Parsimehr - Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, IranZahra Kalhor - Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, IranMehrshid Faraji Zonooz - Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, IranFatemeh Ahangari - Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, IranShima Dehdahsi - Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, IranFarshide Samiee - Genet Med Counseling Ctr, Qazvin, IranPayman Jamali - Welf Off, Shahrood Genet Counseling Ctr, Shahrood, IranHaleh Habibi - Mobasher Hosp, Family Hlth Clin, Genet Counseling Ctr, Hamadan, IranYounes Nourizadeh - Genet Counseling Ctr Welf Org, Ilam, IranShokouh Mahdavi - Welf Inst Genet Off, Tehran, IranMaryam Beheshtian - Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranAriana Kariminejad - Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, IranRichard J. H Smith - Univ Iowa, Dept Otolaryngol Head & Neck Surg, Carver Coll Med, Mol Otolaryngol & Renal Res Labs, Iowa City, IA 52242 USAHossein Najmabadi - Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran
- Resource Type
- Journal article
- Publication Details
- Iranian journal of public health, Vol.48(10), pp.1910-1915
- Publisher
- IRANIAN SCIENTIFIC SOCIETY MEDICAL ENTOMOLOGY
- PMID
- 31850270
- PMCID
- PMC6908923
- ISSN
- 2251-6085
- eISSN
- 2251-6093
- Number of pages
- 6
- Language
- English
- Date published
- 10/01/2019
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984256795102771
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