Mutations in Gjb2 As Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of C.299-300Delat Mutation in Kurdish Population of Iran

Mutations in Gjb2 As Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of C.299-300Delat Mutation in Kurdish Population of Iran Publisher

Azadegandehkordi F¹ ; Bahrami T² ; Shirzad M³ ; Karbasi G⁴ ; Yazdanpanahi N⁵ ; Farrokhi E¹ ; Koohiyan M⁶ ; Tabatabaiefar MA⁶ ; Hashemzadehchaleshtori M¹

Show Affiliations

1. Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran
2. Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences (TUMS), Tehran, Iran
3. Medical Plants Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran
4. Kurdistan Provinces Social Welfare Organization, Kurdistan, Iran
5. Department of Genetics, Falavarjan Branch, Islamic Azad University, Isfahan, Iran
6. Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

Source: Journal of Audiology and Otology Published:2019

Abstract

Background and Objectives: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population. Subjects and Methods: Genomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project). Results: A total of three different mutations were determined. Two of which [c.35delG and c.-23+1G > A (IVS1+1G > A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G > A/c.-23+1G > A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p < 0.001). Conclusions: Our data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population. © 2019 The Korean Audiological Society and Korean Otological Society.

Related Docs

View other Related Docs

1. Mutation Analysis of Gjb2 and Gjb6 Genes and Screening of Nine Common Dfnb Loci in Iranian Pedigrees With Autosomal Recessive Nonsyndromic Hearing Loss, Indian Journal of Otology (2019)

2. Gjb2 C.−23+1G>A Mutation Is Second Most Common Mutation Among Iranian Individuals With Autosomal Recessive Hearing Loss, European Archives of Oto-Rhino-Laryngology (2015)

3. Screening of 10 Dfnb Loci Causing Autosomal Recessive Non-Syndromic Hearing Loss in Two Iranian Populations Negative for Gjb2 Mutations, Iranian Journal of Public Health (2019)

4. Specific Distribution of Gjb2 Mutations in Kurdistan Province of Iran; Report of a Relatively Isolated Population, Journal of Sciences# Islamic Republic of Iran (2017)

5. The Role and Spectrum of Slc26a4 Mutations in Iranian Patients With Autosomal Recessive Hereditary Deafness, International Journal of Audiology (2015)

6. A Novel Pathogenic Variant in the Cabp2 Gene Causes Severe Nonsyndromic Hearing Loss in a Consanguineous Iranian Family, Audiology and Neurotology (2019)

7. A Novel Pathogenic Variant in the Lrtomt Gene Causes Autosomal Recessive Non-Syndromic Hearing Loss in an Iranian Family, BMC Medical Genetics (2020)

8. A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a Dfnb12 Nonsyndromic Phenotype of Cdh23, Audiology and Neurotology (2020)

Experts (# of related papers)

View all Related Experts

Sayed Hamidreza Abtahi (2)

Saeid Amanpour (1)

Style	Citing Format
MLA	Azadegandehkordi F, et al.. "Mutations in Gjb2 As Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of C.299-300Delat Mutation in Kurdish Population of Iran." Journal of Audiology and Otology, vol. 23, no. 1, 2019, pp. 20-26.
APA	Azadegandehkordi F, Bahrami T, Shirzad M, Karbasi G, Yazdanpanahi N, Farrokhi E, Koohiyan M, Tabatabaiefar MA, Hashemzadehchaleshtori M (2019). Mutations in Gjb2 As Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of C.299-300Delat Mutation in Kurdish Population of Iran. Journal of Audiology and Otology, 23(1), 20-26.
Chicago	Azadegandehkordi F, Bahrami T, Shirzad M, Karbasi G, Yazdanpanahi N, Farrokhi E, Koohiyan M, Tabatabaiefar MA, Hashemzadehchaleshtori M. "Mutations in Gjb2 As Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of C.299-300Delat Mutation in Kurdish Population of Iran." Journal of Audiology and Otology 23, no. 1 (2019): 20-26.
Harvard	Azadegandehkordi F et al. (2019) 'Mutations in Gjb2 As Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of C.299-300Delat Mutation in Kurdish Population of Iran', Journal of Audiology and Otology, 23(1), pp. 20-26.
Vancouver	Azadegandehkordi F, Bahrami T, Shirzad M, Karbasi G, Yazdanpanahi N, Farrokhi E, et al.. Mutations in Gjb2 As Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of C.299-300Delat Mutation in Kurdish Population of Iran. Journal of Audiology and Otology. 2019;23(1):20-26.
BibTex	@article{ author = {Azadegandehkordi F and Bahrami T and Shirzad M and Karbasi G and Yazdanpanahi N and Farrokhi E and Koohiyan M and Tabatabaiefar MA and Hashemzadehchaleshtori M}, title = {Mutations in Gjb2 As Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of C.299-300Delat Mutation in Kurdish Population of Iran}, journal = {Journal of Audiology and Otology}, volume = {23}, number = {1}, pages = {20-26}, year = {2019} }
RIS	TY - JOUR AU - Azadegandehkordi F AU - Bahrami T AU - Shirzad M AU - Karbasi G AU - Yazdanpanahi N AU - Farrokhi E AU - Koohiyan M AU - Tabatabaiefar MA AU - Hashemzadehchaleshtori M TI - Mutations in Gjb2 As Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of C.299-300Delat Mutation in Kurdish Population of Iran JO - Journal of Audiology and Otology VL - 23 IS - 1 SP - 20 EP - 26 PY - 2019 ER -

Science Communicator Platform

Authors

Authors Affiliations

Abstract