Common molecular etiology of patients with nonsyndromic hearing loss in Tibetan, Tu nationality, and Mongolian patients in the northwest of China

Yang, Xiaolong; Bai-Cheng, Xu; Chen, Xingjian; Bian, Panpan; Ma, Jianyang; Liu, Xiaowen; Zhang, Zhe-Wen; Du, Wei; Zhu, Yiping; Guo, Yufen

doi:10.3109/00016489.2013.795288

Cited by 9 publications

(9 citation statements)

References 18 publications

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“…Our study was consistent with previous reports suggesting that SLC26A4 mutations account for 4-17% of inherited deafness cases (Guo et al, 2008;Qu et al, 2012;Xin et al, 2013;Yang et al, 2013). As expected, c.IVS7-2A > G was the most common SLC26A4 gene mutation.…”

Section: Figsupporting

confidence: 93%

Prevalence of Mutations in GJB2, SLC26A4, and mtDNA in Children with Severe or Profound Sensorineural Hearing Loss in Southwestern China

Zhou

Lai

et al. 2015

Genetic Testing and Molecular Biomarkers

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Aim: To study the distribution characteristics of common mutations in the GJB2, SLC26A4, and mtDNA genes in children with severe or profound sensorineural hearing loss (SNHL) in southwestern China. Materials and Methods: A total of 1,164 individuals were recruited to screen for the common GJB2, SLC26A4, and mtDNA mutations by microarrays. Subsequencing for the coding region of the GJB2 gene in the samples without the GJB2 hotspot mutations as well as subsequencing for the exon 1 of the TRMU gene in those samples with the mtDNA hotspot mutations was performed by Sanger sequencing. All mutations were analyzed in association with medical imaging. Results: In this study, 28.43% of all subjects carried mutations. The mutation frequencies in the GJB2, SLC26A4, and mtDNA genes were 17.27%, 7.04%, and 4.12%, respectively. No TRMU mutation was found in the study. The frequency of the mtDNA mutations in the multiethnic minorities was six times that in the Han (11.23% vs. 1.91%; p approaches 0.000) and in the urban group was one-third of that in the suburban group(1.49% vs. 4.47%; p = 0.047). The frequency of the GJB2 mutations in urban and suburban groups was 23.38% and 15.99%, respectively ( p = 0.012). The enlarged vestibular aqueduct (EVA) was the most common inner ear malformation and *79.10% of EVA cases were associated with the SLC26A4 mutations. Conclusions: More than one-fourth of children with severe or profound SNHL carried the common deafness mutations. The proportions of ethnic minorities and urban subjects could impact the frequency of the GJB2 and mtDNA mutations. The SLC26A4 hotspot mutations are prevalent and correlate strongly with EVA.

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Section: Figsupporting

confidence: 93%

Prevalence of Mutations in GJB2, SLC26A4, and mtDNA in Children with Severe or Profound Sensorineural Hearing Loss in Southwestern China

Zhou

Lai

et al. 2015

Genetic Testing and Molecular Biomarkers

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“…Only one boy with 10 years old harbored the m.1555A>G homoplasmic mutation in our study, according for 0.26% (1/380) and none of the mutations were found in the control group. The frequency mutation of 12S rRNA in our result was lower than 51.11% in Northern Chinese subjects reported by Guo's group [18]，also lower than the northwest of China [19]. This may be related to a majority of our patients group were congenital and prelingual deafness.…”

Section: Discussioncontrasting

confidence: 73%

Mutation analysis of common GJB2 , SCL26A4 and 12S rRNA genes among 380 deafness patients in northern China

Pan

Tang

et al. 2017

International Journal of Pediatric Otorhinolaryngology

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“…Taking into account the complexity of ethnic history of Tuvinians, it remains unclear, who actually were the c.516G>C founders—different ancient Turkic- or Mongolic-speaking groups or other aboriginal peoples who lived there. The introduction of c.516G>C into Tuva territory with migration flows of ancient Mongolic-speaking groups is not consistent with the finding of c.516G>C in only one deaf patient from Mongolia [ 14 , 59 ] as well as with its absence in Mongolian patients living in China [ 60 , 61 ]. It is known that several nomadic Tuvinian groups roamed in the past across the territories of Tuva and Mongolia had remained in Mongolia when Tuva was separated from Mongolia to become under Russian protectorate after the breakup of the Qing Empire in 1911–1912 [ 54 , 55 ].…”

Section: Discussionmentioning

confidence: 78%

High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect

Zytsar

Бады-Хоо

Danilchenko

et al. 2020

Genes

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The mutations in the GJB2 gene (13q12.11, MIM 121011) encoding transmembrane protein connexin 26 (Cx26) account for a significant portion of hereditary hearing loss worldwide. Earlier we found a high prevalence of recessive GJB2 mutations c.516G>C, c.-23+1G>A, c.235delC in indigenous Turkic-speaking Siberian peoples (Tuvinians and Altaians) from the Tyva Republic and Altai Republic (Southern Siberia, Russia) and proposed the founder effect as a cause for their high rates in these populations. To reconstruct the haplotypes associated with each of these mutations, the genotyping of polymorphic genetic markers both within and flanking the GJB2 gene was performed in 28 unrelated individuals homozygous for c.516G>C (n = 18), c.-23+1G>A (n = 6), or c.235delC (n = 4) as well as in the ethnically matched controls (62 Tuvinians and 55 Altaians) without these mutations. The common haplotypes specific for mutations c.516G>C, c.-23+1G>A, or c.235delC were revealed implying a single origin of each of these mutations. The age of mutations estimated by the DMLE+ v2.3 software and the single marker method is discussed in relation to ethnic history of Tuvinians and Altaians. The data obtained in this study support a crucial role of the founder effect in the high prevalence of GJB2 mutations c.516G>C, c.-23+1G>A, c.235delC in indigenous populations of Southern Siberia.

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Common molecular etiology of patients with nonsyndromic hearing loss in Tibetan, Tu nationality, and Mongolian patients in the northwest of China

Cited by 9 publications

References 18 publications

Prevalence of Mutations in GJB2, SLC26A4, and mtDNA in Children with Severe or Profound Sensorineural Hearing Loss in Southwestern China

Prevalence of Mutations in GJB2, SLC26A4, and mtDNA in Children with Severe or Profound Sensorineural Hearing Loss in Southwestern China

Mutation analysis of common GJB2 , SCL26A4 and 12S rRNA genes among 380 deafness patients in northern China

High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect

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