Masoumeh Falah1, Massoud Houshmand1,2, Maryam Balali1, Alimohamad Asghari3, Zohreh Bagher1, Rafieh Alizadeh1, Mohammad Farhadi1. 1. a ENT and Head & Neck Research Center and Department, The Five Senses Institute, Hazrat Rasool Akram Hospital , Iran University of Medical Sciences , Tehran , Islamic Republic of Iran. 2. b Department of Medical Genetics , National Institute for Genetic Engineering and Biotechnology , Tehran , Islamic Republic of Iran. 3. c Skull Base Research Center , Iran University of Medical Sciences , Tehran , Islamic Republic of Iran.
Abstract
Background: Hearing impairment (HI) is a heterogeneous disorder. GJB2 and GJB6 genes are typically the first line of genetic screening before proceeding to any massive parallel sequencing. We evaluated the clinical utility of GJB2 and GJB6 testing in the Iranian population. Methods: GJB2 and GJB6 were sequenced. PubMed and Google Scholar were searched for Iranian publications on deletions in the DFNB1 locus. Results: We detected mutations of GJB2 in 16.5%, and no mutations of GJB6. Literature review revealed no reports of mutations of GJB6 in the Iranian population. Conclusion: This data and literature reviews indicate that GJB6 is not commonly responsible for Iranian nonsyndromic HI. Hence, the clinical utility of GJB6 genetic analysis as a first line for HI evaluation does not have the same utility as GJB2. The study is consistent with recent studies emphasizing the role of ethnicity in the selection of HI genetic testing strategy.
Background: Hearing impairment (HI) is a heterogeneous disorder. GJB2 and GJB6 genes are typically the first line of genetic screening before proceeding to any massive parallel sequencing. We evaluated the clinical utility of GJB2 and GJB6 testing in the Iranian population. Methods:GJB2 and GJB6 were sequenced. PubMed and Google Scholar were searched for Iranian publications on deletions in the DFNB1 locus. Results: We detected mutations of GJB2 in 16.5%, and no mutations of GJB6. Literature review revealed no reports of mutations of GJB6 in the Iranian population. Conclusion: This data and literature reviews indicate that GJB6 is not commonly responsible for Iranian nonsyndromic HI. Hence, the clinical utility of GJB6 genetic analysis as a first line for HI evaluation does not have the same utility as GJB2. The study is consistent with recent studies emphasizing the role of ethnicity in the selection of HI genetic testing strategy.
Authors: Hongyang Wang; Yun Gao; Jing Guan; Lan Lan; Ju Yang; Wenping Xiong; Cui Zhao; Linyi Xie; Lan Yu; Dayong Wang; Qiuju Wang Journal: Front Cell Dev Biol Date: 2021-02-26