Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran

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ALIAZAMI Farnoush; FARHUD DARIUSH; ZARIF YEGANEH MARJAN; SALEHI Siamak; HOSSEINIPOUR Azam; SASANFAR Roxana; ESLAMI MARYAM

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Journal: Iranian Journal of Public Health Year:2020 | Volume:49 | Issue:11 Page(s): 2128-2135

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Title

Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran

Author(s)

Keywords

Non-syndromic hearing loss (NSHL)

Ethnicity

Iran

Connexin31 (Cx31)

Abstract

Background: Hearing loss (HL) is one of the most common heterogeneous congenital disabilities worldwide. Gap junction protein β-3 (GJB3) gene encodes Connexin31 protein (Cx31). The hereditary type of hearing im-pairment in this gene are known to cause both autosomal recessive and autosomal dominant form. In addition, GJB3 mutations have been involved in sensorineural deafness, erythrokeratodermia variabilis (EKV), and neu-ropathy diseases. We aimed to investigate GJB3 mutations in people suffering from HL among three different ethnicities of Iranian population (Baloch, Kurd, and Turkmen). Methods: In this descriptive study, 50 GJB2-negative non-syndromic hearing loss (NSHL) Iranian individuals from 3 ethnic groups of Baloch (n=17), Kurd (n =15) and Turkmen (n=18) were enrolled. DNA extractions, PCR, and mutation detection was carried out for the two large deletions of the GJB6, del (GJB6-D13S1830, ) and del (GJB6-D13S1854) followed by direct DNA sequencing method for the GJB3. Results: DNA sequencing of GJB3 was shown a missense heterozygous mutation rs199689484 (NM_024009. 3) GJB3: c. 340G>A (p. Ala114Thr) in a Baloch patient, and a polymorphism rs35983826 (NM_024009. 3) GJB3: c. 798C>T (p. Asn266=) in a Turkman patient, in coding region of the GJB3. We did not detect del (GJB6-D13S1830) and del (GJB6-D13S1854) among these three ethnicities in Iran. Conclusion: Deafness is a heterogeneous disorder. Specific genes and mutations contribute to hearing loss that varies from locus to locus as well as from population to population.

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APA: Copy

ALIAZAMI, Farnoush, FARHUD, DARIUSH, ZARIF YEGANEH, MARJAN, SALEHI, Siamak, HOSSEINIPOUR, Azam, SASANFAR, Roxana, & ESLAMI, MARYAM. (2020). Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran. IRANIAN JOURNAL OF PUBLIC HEALTH, 49(11), 2128-2135. SID. https://sid.ir/paper/684538/en

Vancouver: Copy

ALIAZAMI Farnoush, FARHUD DARIUSH, ZARIF YEGANEH MARJAN, SALEHI Siamak, HOSSEINIPOUR Azam, SASANFAR Roxana, ESLAMI MARYAM. Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran. IRANIAN JOURNAL OF PUBLIC HEALTH[Internet]. 2020;49(11):2128-2135. Available from: https://sid.ir/paper/684538/en

IEEE: Copy

Farnoush ALIAZAMI, DARIUSH FARHUD, MARJAN ZARIF YEGANEH, Siamak SALEHI, Azam HOSSEINIPOUR, Roxana SASANFAR, and MARYAM ESLAMI, “Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran,” IRANIAN JOURNAL OF PUBLIC HEALTH, vol. 49, no. 11, pp. 2128–2135, 2020, [Online]. Available: https://sid.ir/paper/684538/en

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