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

Fatemeh Azadegan-Dehkordi; Tayyebe Bahrami; Maryam Shirzad; Gelareh Karbasi; Nasrin Yazdanpanahi; Effat Farrokhi; Mahbobeh Koohiyan; Mohammad Amin Tabatabaiefar; Morteza Hashemzadeh-Chaleshtori

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저자정보: Fatemeh Azadegan-Dehkordi (Shahrekord University of Medical Sciences) Tayyebe Bahrami (Tehran University of Medical Sciences) Maryam Shirzad (Shahrekord University of Medical Sciences) Gelareh Karbasi (Kurdistan Provinces Social Welfare Organization) Nasrin Yazdanpanahi (Islamic Azad University) Effat Farrokhi (Shahrekord University of Medical Sciences) Mahbobeh Koohiyan (Isfahan University of Medical Sciences) Mohammad Amin Tabatabaiefar (Isfahan University of Medical Sciences) Morteza Hashemzadeh-Chaleshtori (Shahrekord University of Medical Sciences)

저널정보: 대한청각학회 Journal of Audiology & Otology Journal of Audiology & Otology Vol.23 No.1

발행연도: 2019.1

수록면: 20 - 26 (7page)

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Background and Objectives: Autosomal recessive non-syndromic hearing loss (ARNSHL)with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations ingap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find thecontribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHLcases in the Kurdish population. Subjects and Methods: Genomic DNA was extractedfrom a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markerslinked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families werelinked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmationlinkage analysis (to perform a large project). Results: A total of three different mutationswere determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previouslyreported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygouspathogenic 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 observedin 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutationswas 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 inIran; 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 thispopulation.

#Hearing loss · Autosomal recessive non-syndromic hearing loss · Gap junction protein beta 2

참고문헌 (30)

참고문헌 신청

Nasrin Yazdanpanahi / 2013 / Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome / Clinical and Experimental Otorhinolaryngology 6(4):201~208

Azadegan-Dehkordi F / 2018 / A novel variant of SLC26A4 and first report of the c.716T>A variant in Iranian pedigrees with non-syndromic sensorineural hearing loss / Am J Otolaryngol 39:719~725

Rehman AU / 2017 / Unresolved questions regarding human hereditary deafness / Oral Dis 23:551~558

Chaleshtori MH / 2007 / High carrier frequency of the GJB2 mutation (35delG) in the north of Iran / Int J Pediatr Otorhinolaryngol 71:863~867

Selli J / 2016 / Protective effects of beta glucan in brain tissues of post-menopausal rats: a histochemical and ultra-structural study / Gynecol Endocrinol 32:234~239

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