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.
journal_name
Iran J Public Healthjournal_title
Iranian journal of public healthauthors
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 Hsubject
Has Abstractpub_date
2019-10-01 00:00:00pages
1910-1915issue
10eissn
2251-6085issn
2251-6093journal_volume
48pub_type
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