Carrier frequencies of hearing loss variants in newborns of China: A meta‐analysis

Ya-li, FU; Zha, Shuwei; Lü, Nian-Qing; Xu, Hao-Qin; Zhang, Xuening; Shi, Wei; Zha, Ji

doi:10.1111/jebm.12305

Cited by 17 publications

(23 citation statements)

References 27 publications

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“…In this study, we performed exome sequencing analysis for 351 affected individuals with hearing loss. Among the identified causal genes, variants in GJB2 and SLC26A4 were most frequently identified in this cohort, which is similar to previous reports ( Fu et al, 2019 ; Xie et al, 2021 ). Here, we reported the identification of four novel variants in the CDH23 gene ( Table 1 ), which significantly expanded the mutation spectrum of CDH23 -associated non-syndromic autosomal recessive deafness.…”

Section: Discussionsupporting

confidence: 91%

Identification of four novel variants in the CDH23 gene from four affected families with hearing loss

Kang

Lu²,

Xiong³

et al. 2022

Front. Genet.

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Background: Hearing loss (HL) is the most common form of sensory disorder in humans. Molecular diagnosis of HL is important for genetic counseling for the affected individuals and their families.Methods: To identify potential genetic causes, we performed whole-exome sequencing and related biomedical informatics for 351 non-syndromic HL patients and their family members.Results: In the present study, we report the identification of four compound heterozygous variants in the CDH23 gene from four affected families, including four novel variants (c.995C>A, p.T332K; c.2159G>A, p.R720Q; c.5534A>G, p.N1845S, and c.7055-1G>C) and two frequently reported variants (c.719C>T, p.P240L and c.4762C>T, p.R1588W).Conclusion: Our findings significantly expanded the mutation spectrum of CDH23-associated autosomal recessive hearing loss.

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Section: Discussionsupporting

confidence: 91%

Identification of four novel variants in the CDH23 gene from four affected families with hearing loss

Kang

Lu²,

Xiong³

et al. 2022

Front. Genet.

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“…Mitochondrial 12S rRNA mutations are related to aminoglycoside induced deafness [ 42 ]. The mutation frequencies of mtDNA m.1557A > G and m.1496 C > T in China were 0.20% and 0.03% respectively [ 43 ]. Genetic screening helps to identify carriers and avoid deafness caused by administration of aminoglycoside antibiotics.…”

Section: Discussionmentioning

confidence: 99%

Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates

Huang

Zhu

et al. 2022

Orphanet J Rare Dis

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Background Newborn screening (NBS) has been implemented for neonatal inborn disorders using various technology platforms, but false-positive and false-negative results are still common. In addition, target diseases of NBS are limited by suitable biomarkers. Here we sought to assess the feasibility of further improving the screening using next-generation sequencing technology. Methods We designed a newborn genetic sequencing (NBGS) panel based on multiplex PCR and next generation sequencing to analyze 134 genes of 74 inborn disorders, that were validated in 287 samples with previously known mutations. A retrospective cohort of 4986 newborns was analyzed and compared with the biochemical results to evaluate the performance of this panel. Results The accuracy of the panel was 99.65% with all samples, and 154 mutations from 287 samples were 100% detected. In 4986 newborns, a total of 113 newborns were detected with biallelic or hemizygous mutations, of which 36 newborns were positive for the same disorder by both NBGS and conventional NBS (C-NBS) and 77 individuals were NBGS positive/C-NBS negative. Importantly, 4 of the 77 newborns were diagnosed currently including 1 newborn with methylmalonic acidemia, 1 newborn with primary systemic carnitine deficiency and 2 newborns with Wilson’s disease. A total of 1326 newborns were found to be carriers with an overall carrier rate of 26.6%. Conclusion Analysis based on next generation sequencing could effectively identify neonates affected with more congenital disorders. Combined with C-NBS, this approach may improve the early and accurate identification of neonates with inborn disorders. Our study lays the foundation for prospective studies and for implementing NGS-based analysis in NBS.

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“…This means that one in 393 newborns is potentially highly sensitive to aminoglycosides, and even a small dose of such drugs may lead to aminoglycoside antibiotic-induced deafness. A meta-analysis showed that in newborns in China, the carrier frequency of MT-RNR 1 variants (m.1555A>G and m.1449C>T) was 0.20% (Fu et al 2019), while the prevalence of m.1555A>G was 0.19% in a European general population (Bitner-Glindzicz et al 2009). Newborn genetic screening for HL helps to inform MT-RNR 1 variant carriers with a risk of drug-induced HL to avoid aminoglycoside antibiotic exposure and therefore HL (Bitner-Glindzicz et al 2009; Igumnova et al 2019).…”

Section: Discussionmentioning

confidence: 99%

The Frequency of Common Deafness-Associated Variants Among 3,555,336 Newborns in China and 141,456 Individuals Across Seven Populations Worldwide

et al. 2022

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Objectives: Genetic screening can benefit early detection and intervention for hearing loss. The frequency of common deafness-associated variants in general populations is highly important for genetic screening and genetic counseling tailored to different ethnic backgrounds. We aimed to analyze the frequency of common deafness-associated variants in a large population-based Chinese newborn cohort and to explore the population-specific features in diverse populations worldwide. Design: This population-based cohort study analyzed the frequency of common deafness-associated variants in 3,555,336 newborns in the Chinese Newborn Concurrent Hearing and Genetic Screening cohort. Participants were newborn infants born between January 2007 and September 2020. Limited genetic screening for 20 variants in 4 common deafness-associated genes and newborn hearing screening were offered concurrently to all newborns in the Chinese Newborn Concurrent Hearing and Genetic Screening cohort. Sequence information of 141,456 individuals was also analyzed from seven ethnic populations from the Genome Aggregation Database for 20 common deafness-related variants. Statistical analysis was performed using R. Results: A total of 3,555,326 Chinese neonates completed the Newborn Concurrent Hearing and Genetic Screening were included for analysis. We reported the distinct landscape of common deafness-associated variants in this large population-based cohort. We found that the carrier frequencies of GJB2, SLC26A4, GJB3, and MT-RNR were 2.53%, 2.05%, 0.37%, and 0.25%, respectively. Furthermore, GJB2 c.235delC was the most common variant with an allele frequency of 0.99% in the Chinese newborn population. We also demonstrated nine East-Asia-enriched variants, one Ashkenazi Jewish-enriched variant, and one European/American-enriched variant for hearing loss. Conclusions: We showed the distinct landscape of common deafness-associated variants in the Chinese newborn population and provided insights into population-specific features in diverse populations. These data can serve as a powerful resource for otolaryngologists and clinical geneticists to inform population-adjusted genetic screening programs for hearing loss.

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Carrier frequencies of hearing loss variants in newborns of China: A meta‐analysis

Cited by 17 publications

References 27 publications

Identification of four novel variants in the CDH23 gene from four affected families with hearing loss

Identification of four novel variants in the CDH23 gene from four affected families with hearing loss

Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates

The Frequency of Common Deafness-Associated Variants Among 3,555,336 Newborns in China and 141,456 Individuals Across Seven Populations Worldwide

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