GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness

Fang, Yuan; Gu, Maosheng; Wang, Chuanxia; Feng, Shi Ting; Wang, Guangming; Xia, Yujuan

doi:10.1007/s12013-015-0562-3

Cited by 17 publications

(15 citation statements)

References 26 publications

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“…A total of 112 (9.33%) cases in the patient group and three individuals in the control group were found to carry mutations of SLC26A4 . Similar to other studies, our study revealed that c.919‐2A>G and c.2168A>G were the most frequent mutations of SLC26A4 in Shanxi Province (Adhikary et al, ; Fang et al, ; Ma et al, ). SLC26A4 mutations are strongly associated with inner ear malformation and EVA.…”

Section: Discussionsupporting

confidence: 90%

Mutation analysis of common deafness genes among 1,201 patients with non‐syndromic hearing loss in Shanxi Province

Zhou

et al. 2019

Molec Gen & Gen Med

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Background Hearing impairment is one of most frequent birth defects, which affects nearly 1 in every 1,000 live births. However, the molecular etiology of non‐syndromic deafness in China is not well studied. Here, we have investigated the presence of mutations in three genes commonly mutated in non‐syndromic deafness patients in Shanxi Province, which has the highest frequency of birth defects in China. Methods In total, 1,201 unrelated non‐syndromic deafness patients and 300 healthy individuals were enrolled. The hearing ability was confirmed by audiologic evaluation. Three major deafness‐related genes ( GJB2, SLC26A4 (PDS), and mtDNA 12S rRNA ) of all individuals enrolled were analyzed by Sanger sequencing. Results The results showed that GJB2 mutations accounted for 21.23% (255/1,201) in the patient group, with c.235delC, a hotspot mutation, accounting for 10.99% (132/1,201). Moreover, 11 new GJB2 mutations were identified. SLC26A4 mutations accounted for 9.33% (112/1,201) in the patient group, with IVS7‐2A>G as the most prevalent mutation accounting for 4.75% (57/1,201). In addition, 15 patients (1.25%) were found to carry mtDNA 12S rRNA c.1555A>G mutation, while only two cases had the mtDNA 12S rRNA c.1494C>T. Conclusion In our research, it was found that c.235delC in GJB2 and c.919‐2A>G (IVS7‐2A>G) in SLC26A4 were the highest frequency pathogenic variants in Shanxi Province. Taken together, our data will enrich the database of deafness mutations and will help clinical diagnosis, treatment, and genetic counseling of hearing impairment.

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Section: Discussionsupporting

confidence: 90%

Mutation analysis of common deafness genes among 1,201 patients with non‐syndromic hearing loss in Shanxi Province

Zhou

et al. 2019

Molec Gen & Gen Med

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“…Previous studies have reported that GJB2 , SLC26A4 , GJB3 , and mitochondrial genes are the most common causes NSHL in Chinese people. [ 14 , 29 – 31 ] Here we studied retrospectively 100 loci of 18 genes known to cause hearing impairment. The actual hearing tests of the subjects were not complete in our study.…”

Section: Discussionmentioning

confidence: 99%

Analysis of mutation spectrum of common deafness-causing genes in Hakka newborns in southern China by semiconductor sequencing

2018

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Hearing loss is a common neurosensory disorder, approximately half of the cases are caused by genetic factors, and approximately 70% of hereditary hearing impairments are nonsyndromic hearing loss (NSHL). The mutations of GJB2 (gap junction beta-2 protein), GJB3 (gap junction beta-3 protein), SLC26A4 (solute carrier family 26 member 4), and MT-RNR1 (mitochondrially encoded 12S RNA) are the most common inherited causes of NSHL. Because of different genetic backgrounds, the mutation spectrum of these common deafness-causing genes varies among different regions in China. Because no data are known on these mutations among the Hakka population of Southern China, we aim to investigate the mutation spectrum to add these to neonatal screening and genetic counseling. A total of 1252 blood samples from newborns have been detected by semiconductor sequencing for 100 mutations loci of 18 deafness-causing genes. Of the participants, 95 subjects carried deafness-causing genes mutations with the carrier rate of 7.59%. The mutation frequencies of GJB2, SLC26A4, GJB3, and mitochondrial genes were 3.04%, 3.51%, 0.16%, and 0.88%, respectively. We followed up subjects with single-gene homozygous or compound heterozygous mutations. Our study firstly analyzed deafness-causing genes mutation spectrum in Hakka population, providing evidence for future neonatal screening and genetic counseling in this area.

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“…GJB2 , SLC26A4 , and mtDNA12SrRNA are three of the most common disease‐causing genes reported in Chinese NSHL population (Duan et al., ; Fang et al., ). In this study, we used SNP scan assay to screen for the common deafness gene mutations among 535 profound NSHL patients who had undergone cochlear implantation in Shandong Province, East China.…”

Section: Discussionmentioning

confidence: 99%

Prevalence of Mutations in Deafness‐Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China

Luo

Bai

Zhang

et al. 2017

Annals of Human Genetics

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The mutations of GJB2, SLC26A4, and mtDNA12SrRNA are the most common inherited causes of nonsyndromic sensorineural hearing loss (NSHL) in China, yet previous genetic screenings were mainly carried on patients with moderate-to-profound impairment. We aimed to detect the mutation frequencies in NSHL population within a more specified range of severity. Patients with profound NSHL who had undergone cochlear implantation in the Shandong Provincial Hospital (Shandong, China) were recruited. The majority (n = 472) were between 0.7 and 6 years old, and the remaining (n = 63) were between 6 and 70 years old. In total, 115 mutation alleles of the three genes were screened with SNP scan assay. Of the patients, 19.44% (104/535) were found to have GJB2 mutations, and the most common allele was c.235delC, followed by c.299_300delAT and c.109G>A. SLC26A4 mutations were detected in 13.46% patients (72/535), and the most common allele was c.919-2A>G (IVS7-2A>G), followed by c.1174A>T and c.2168A>G. Seven patients (1.31%) carried mutations in mtDNA12SrRNA, with the alleles of m.1555A>G and m.1494C>T. We found the allele frequency of c.109G>A (GJB2) was relatively lower in the profound NSHL population in comparison to the moderate-to-profound ones, and the c.1174A>T (SLC26A4) relatively higher. It suggests those mutations may be connected with the degree of deafness, which needs more observations and analyses to support.

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GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness

Cited by 17 publications

References 26 publications

Mutation analysis of common deafness genes among 1,201 patients with non‐syndromic hearing loss in Shanxi Province

Mutation analysis of common deafness genes among 1,201 patients with non‐syndromic hearing loss in Shanxi Province

Analysis of mutation spectrum of common deafness-causing genes in Hakka newborns in southern China by semiconductor sequencing

Prevalence of Mutations in Deafness‐Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China

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