Genetics of hereditary hearing loss in east Iran population: A systematic review of GJB2 mutations

Koohiyan, Mahbobeh and Azadegan-Dehkordi, Fatemeh and Koohian, Farideh and Abolhasani, Marziye and Hashemzadeh-Chaleshtori, Morteza (2019) Genetics of hereditary hearing loss in east Iran population: A systematic review of GJB2 mutations. INTRACTABLE & RARE DISEASES RESEARCH.

irdr-8-172.pdf - Published Version

Download (431kB) | Preview


Mutations in the GJB2 gene are the most common cause of pre-lingual hearing loss (HL) worldwide. Previous studies have shown the frequency of GJB2 mutations to be 16% in Iran, but varies among different ethnic groups. Here, we have reviewed results from previous published mutation reports to provide a comprehensive collection of data for GJB2 mutations and HL in eastern Iran. We conducted a systematic literature review of PubMed, Google Scholar, Web of Science, and Science Direct databases for articles published before March, 2019. The literature search was performed by 2 independent researchers. The primary data of these studies including the number of samples, allelic frequency, and so on were extracted. Six studies involving 812 unrelated families from four different eastern provinces were included and analyzed for the type and prevalence of GJB2 mutations. A total of 19 different genetic variants were detected. GJB2 mutations were 8.8% in the studied eastern provinces, which was lower than that reported in northern populations of Iran. Moreover, a gradient in the frequency of GJB2 mutations from north to south Iran was observed. c.35delG was the most frequent mutation, accounting for 48.5% % of the populations studied. However, this mutation was absent in the Baluchi population. This review shows that particular rare mutations are frequent in some Iranian ethnic groups, and should be considered for genetic counselling. Keywords Author Keywords:Iranian population; genetic counseling; GJB2; non-syndromic hearing loss KeyWords Plus:HIGH CARRIER FREQUENCY; DEAFNESS MUTATION; SPECTRUM; FAMILIES; CONNEXIN-26; PREVALENCE; 35DELG; GENES; IDENTIFICATION; IMPAIRMENT

Item Type: Article
Subjects: QU Biochemistry > Cell biology and genetics
Divisions: Reserach Vice-Chancellar Department > Cellular and Molecular Research Center
Depositing User: marzieye nazari .
Date Deposited: 03 Nov 2019 07:46
Last Modified: 03 Nov 2019 07:46

Actions (login required)

View Item View Item