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

Zhou, Yongan; Li, Chao; Li, Min; Zhao, Zhonghua; Tian, Shaohua; Hou, Xin; Liu, Peixian; Han, Yaxin; Ren, Ruirui; Chen, Jianping; Jia, Caihong; Guo, Wei

doi:10.1002/mgg3.537

Cited by 19 publications

(18 citation statements)

References 28 publications

(35 reference statements)

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“…In many populations, nearly half of congenital HI cases have a genetic etiology, of which 70% are non-syndromic (Bademci et al, 2016; Sheffield and Smith, 2018). Among non-syndromic (NS) HI, nearly 80% of the cases are inherited in autosomal recessive (AR) mode (Wu et al, 2018; Zhou et al, 2019). To date, more than 98 genes have been identified, in ∼170 NSHI loci mapped (Hereditary Hearing Loss Homepage; ).…”

Section: Introductionmentioning

confidence: 99%

GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana

et al. 2019

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Our study aimed to investigate GJB2 (connexin 26) and GJB6 (connexin 30) mutations associated with non-syndromic childhood hearing impairment (HI) as well as the environmental causes of HI in Ghana. Medical reports of 1,104 students attending schools for the deaf were analyzed. Families segregating HI, as well as isolated cases of HI of putative genetic origin were recruited. DNA was extracted from peripheral blood followed by Sanger sequencing of the entire coding region of GJB2. Multiplex PCR and Sanger sequencing were used to analyze the prevalence of GJB6-D3S1830 deletion. Ninetyseven families segregating HI were identified, with 235 affected individuals; and a total of 166 isolated cases of putative genetic causes, were sampled from 11 schools for the deaf in Ghana. The environmental factors, particularly meningitis, remain a major cause of HI impairment in Ghana. The male/female ratio was 1.49. Only 59.6% of the patients had their first comprehensive HI test between 6 to 11 years of age. Nearly all the participants had sensorineural HI (99.5%; n = 639). The majority had pre-lingual HI (68.3%, n = 754), of which 92.8% were congenital. Pedigree analysis suggested autosomal recessive inheritance in 96.9% of the familial cases. GJB2-R143W mutation, previously reported as founder a mutation in Ghana accounted for 25.9% (21/81) in the homozygous state in familial cases, and in 7.9% (11/140) of non-familial non-syndromic congenital HI cases, of putative genetic origin. In a control population without HI, we found a prevalent of GJB2-R143W carriers of 1.4% (2/145), in the heterozygous state. No GJB6-D3S1830 deletion was identified in any of the HI patients. GJB2-R143W mutation accounted for over a quarter of familial non-syndromic HI in Ghana and should be investigated in clinical practice. The large connexin 30 gene deletion (GJB6-D3S1830 deletion) does not account for of congenital non-syndromic HI in Ghana. There is a need to employ next generation sequencing approaches and functional genomics studies to identify the other genes involved in most families and isolated cases of HI in Ghana.

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Section: Introductionmentioning

confidence: 99%

GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana

et al. 2019

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“… 2 Afterwards, concurrent limited genetic screening and hearing screening programs have been evaluated in several cities and provinces. 10 , 12 , 14 , 15 , 16 , 17 , 18 The results show that limited genetic screening can identify newborns who otherwise might be missed by hearing screening alone and may identify individuals at risk for late-onset HL. Meanwhile, with the advent of next-generation sequencing technology, there has been an expansion in the number of deafness-related genes that can be screened, indicating the need for further evaluation.…”

Section: Introductionmentioning

confidence: 88%

Assessment of Hearing Screening Combined With Limited and Expanded Genetic Screening for Newborns in Nantong, China

Zhu

Zhuang

et al. 2021

JAMA Netw Open

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Key Points Question Is the modified newborn genetic and hearing screening feasible in China? Findings In this population-based cohort study including 32 512 infants, incorporating the limited and expanded genetic screening into physiological screening was associated with identifying 31 newborns with hearing loss missed by the conventional hearing screening, providing etiologic information to 1299 participants, and targeting 517 children at risk of late-onset hearing loss to improve prevention. Meaning Large observational studies are needed to evaluate the cost-effectiveness and long-term benefits of integrated genetic and hearing screening programs.

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“…In Wenzhou (China), 22.92, 17.40, 6.52, and 6.52% of mutations were detected in GJB2, mtDNA 12S rRNA, SLC26A4, and GJB3, respectively, in 509 patients with NSHL (Xiang et al, 2019). In an NSHL patient cohort of 1,204 in Shanxi (China), mutations were found at 21.23, 9.33, 1.25, and 6.52% in genes GJB2, mtDNA 12S rRNA, and SLC26A4, respectively (Zhou et al, 2019). These results suggest that common mutations in deafness genes in Chinese cohorts include GJB2, GJB3, SLC26A4, and mtDNA 12S rRNA.…”

Section: Follow Upmentioning

confidence: 99%

Pregestational screening of hereditary deafness genes carriers in 10,684 normal pregnant women in Zhuzhou, China

Lai

et al. 2021

Birth Defects Research

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Background: Mutations in genes associated with deafness differ between ethnic groups and regions in China. In this study, we investigated the genes associated with deafness in pregnant women to analyze the distribution of mutations leading to deafness in Zhuzhou, China.Methods: A total of 10,684 pregnant women were enrolled in this study. DNA samples were collected to detect the 14 common mutations in deafness genes (at 108 sites). Results: Prevalence of mutations in deafness genes in pregnant women with normal hearing in Zhuzhou was 4.92% (526/10,684). Among these 526 pregnant women with deafness gene mutations, the frequencies of mutated GJB2, GJB3, SLC26A4, and mtDNA 12S rRNA were 40.11, 7.22, 40.68, and 11.98%, respectively. The hotspots for mutations in the deafness genes were: c.235delC in GJB2 (31.18%), c.919-2A > G in SLC26A4 (18.44%), c.299_300delAT in GJB2(5.70%), m.7444G > A in mtDNA 12S rRNA (5.70%), c.1229C > T in SLC26A4 (5.51%), m.1555A > G in mtDNA 12S rRNA (5.32%), accounting for 71.85%. Moreover, husbands of the 526 pregnant women who carried the deafness gene mutations were also included in the analysis to detect deafness gene mutations. Among the 526 husbands, 23 husbands carried mutations in deafness genes, accounting for 4.37%. The deafness gene mutations of the husbands and pregnant wives were not the same. In addition, the results of the neonatal follow-up hearing tests were all normal. Conclusion:Our study identified the prevalence of mutations in GJB2, SLC26A4, mtDNA 12S rRNA, and GJB3 genes in pregnant women from Zhuzhou, China.

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

Cited by 19 publications

References 28 publications

GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana

GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana

Assessment of Hearing Screening Combined With Limited and Expanded Genetic Screening for Newborns in Nantong, China

Pregestational screening of hereditary deafness genes carriers in 10,684 normal pregnant women in Zhuzhou, China

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