title: Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.
abstract: A significant contribution to the causes of hereditary hearing impairment comes from genetic factors. More than 120 genes and 160 loci have been identified to be involved in hearing impairment. Given that consanguine populations are more vulnerable to most inherited diseases, such as hereditary hearing loss (HHL), the genetic picture of HHL among the Iranian population, which consists of at least eight ethnic subgroups with a high rate of intermarriage, is expected to be highly heterogeneous. Using an electronic literature review through various databases such as PubMed, MEDLINE, and Scopus, we review the current picture of HHL in Iran. In this review, we present more than 39 deafness genes reported to cause non-syndromic HHL in Iran, of which the most prevalent causative genes include GJB2, SLC26A4, MYO15A, and MYO7A. In addition, we highlight some of the more common genetic causes of syndromic HHL in Iran. These results are of importance for further investigation and elucidation of the molecular basis of HHL in Iran and also for developing a national diagnostic tool tailored to the Iranian context enabling early and efficient diagnosis of hereditary hearing impairment.
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Maryam
authors.initials: M
authors.lastname: Beheshtian
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Mojgan
authors.initials: M
authors.lastname: Babanejad
authors.affiliation: Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
authors.forename: Hela
authors.initials: H
authors.lastname: Azaiez
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Niloofar
authors.initials: N
authors.lastname: Bazazzadegan
authors.affiliation: Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
authors.forename: Diana
authors.initials: D
authors.lastname: Kolbe
authors.affiliation: Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
authors.forename: Christina
authors.initials: C
authors.lastname: Sloan-Heggen
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Sanaz
authors.initials: S
authors.lastname: Arzhangi
authors.affiliation: Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
authors.forename: Kevin
authors.initials: K
authors.lastname: Booth
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Marzieh
authors.initials: M
authors.lastname: Mohseni
authors.affiliation: Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
authors.forename: Kathy
authors.initials: K
authors.lastname: Frees
authors.affiliation: Academy of Medical Sciences Islamic Republic of Iran, Tehran, Iran.
authors.forename: Mohammad Hossein
authors.initials: MH
authors.lastname: Azizi
authors.affiliation: Head and Neck Surgery Department and Research Center, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Ahmad
authors.initials: A
authors.lastname: Daneshi
authors.affiliation: Head and Neck Surgery Department and Research Center, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Farhadi
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Kimia
authors.initials: K
authors.lastname: Kahrizi
authors.affiliation: Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
authors.forename: Richard Jh
authors.initials: RJ
authors.lastname: Smith
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
mesh_terms: D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D003241:Consanguinity; D003695:Delivery of Health Care; D005820:Genetic Testing; D006319:Hearing Loss, Sensorineural / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D007492:Iran / Q000453:epidemiology; D026901:Membrane Transport Proteins / Q000235:genetics; D009154:Mutation; D000081412:Myosin VIIa; D009218:Myosins / Q000235:genetics; D000076988:Sulfate Transporters
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; C485245:MYO15A protein, human; C000631455:MYO7A protein, human; D026901:Membrane Transport Proteins; D000081412:Myosin VIIa; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26; D009218:Myosins