Newborn genetic screening for hearing impairment: a population-based longitudinal study

Wu, Chen‐Chi; Tsai, Ching-Hui; Hung, Chia-Cheng; Lin, Yin-Hung; Lin, Yi‐Hsin; Huang, Fang-Li; Tsao, Po‐Nien; Su, Yi‐Ning; Lee, Yungling Leo; Hsieh, Wu‐Shiun

doi:10.1038/gim.2016.66

Cited by 64 publications

(80 citation statements)

References 40 publications

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“…Functional studies performed in cells and mouse models support this conclusion [40–42]. In consistent with previous reports [6, 12–14], we observed that the HL phenotypes associated with p.V37I varied by onset type, disease site, and degree of HL, implying that other causes, especially environmental factors, influence p.V37I-mediated onset of HL. Notably, we also found that homozygous p.V37I might give rise to sudden deafness in children.…”

Section: Discussionsupporting

confidence: 92%

“…In particular, the p.V37I (c.109G>A) variant of GJB2 has a high allele frequency (up to 10%) among East Asian populations [4–6]. This variant, harboring a missense substitution from valine to isoleucine at codon 37, was first identified by Kelley et al in 1998 [7].…”

Section: Introductionmentioning

confidence: 99%

“…Early studies regarded the p.V37I as a benign polymorphism, as it was observed in unaffected heterozygous controls [7–11]. However, the identification of increasing numbers of HL patients that are homozygous for p.V37I, or compound heterozygous for p.V37I and other GJB2 pathogenic variants, indicates that p.V37I likely increases the risk of HL, particularly for mild-to-moderate cases [6, 12–15]. Interestingly, a recent meta-analysis reported an insignificant association between the carriage rates of p.V37I and HL, which aroused wide concern regarding the pathogenicity of this variant [16].…”

Section: Introductionmentioning

confidence: 99%

“…Given the high allelic frequency of the p.V37I variant (up to 10%), it is estimated that greater than five million East Asians suffer from HL due to homozygous or compound heterozygous carriage of this allele [6]. It is therefore imperative to evaluate the risks associated with p.V37I for clinical genetic counseling and public health assessment purposes.…”

Section: Introductionmentioning

confidence: 99%

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Association between the p.V37I variant of GJB2 and hearing loss: a pedigree and meta-analysis

et al. 2017

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Pathogenic variants in the gap junction protein beta-2 (GJB2) gene are the most common cause of hearing loss. Of these, the p.V37I variant of GJB2 has a high allele frequency (up to 10%) in East Asians. Characterization of the phenotypic spectrum associated with p.V37I, as well as the role of this variant in the onset of hearing loss could have a remarkable effect on future diagnostic strategies. Here, we performed a pedigree analysis of unrelated families exhibiting various hearing phenotypes, and then conducted a meta-analysis to comprehensively assess the association between the p.V37I and the risk of hearing loss. Pedigree analyses showed that both homozygous p.V37I variants, as well as compound heterozygous p.V37I with other GJB2 pathogenic variants, contributed to various phenotypes of hearing loss. Meanwhile, meta-analysis demonstrated that, compared with those in the wild type group, both p.V37I homozygotes and compound heterozygous p.V37I variants were at significantly higher risk of developing hearing loss (odds ratios = 7.14 and 3.63; 95% confidence intervals = 3.01-16.95 and 1.38–9.54, respectively). Conversely, heterozygous p.V37I variants alone did not increase the risk of hearing loss. Given the high allele carriage rate of p.V37I (up to 10%) within the general population, our work not only provides information that might influence future genetic screening policies, but also offers insight into clinical risk evaluation and genetic counseling regarding hearing loss.

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Section: Discussionsupporting

confidence: 92%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Association between the p.V37I variant of GJB2 and hearing loss: a pedigree and meta-analysis

et al. 2017

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“…Since 1993, when the first hearing loss gene was identified, more than 100 loci for deafness genes have been mapped and about 80 genes have been reported to be associated with non‐syndromic hearing loss ( Hereditary Hearing Loss Homepage ). Exhilaratingly, combining the GWAS analysis and the next‐generation sequencing technique, more than 150 loci have been discovered to date, including 54 autosomal dominant loci, 71 autosomal recessive loci, 5 X‐linked loci, two modifiers, and 1 Y‐linked locus (Wu et al, ). Although many new genes have been found, the most common genes associated with hearing impairment still are GJB2, SLC26A4, and mtDNA 12S rRNA .…”

Section: Introductionmentioning

confidence: 99%

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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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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Newborn genetic screening for hearing impairment: a population-based longitudinal study

Cited by 64 publications

References 40 publications

Association between the p.V37I variant of GJB2 and hearing loss: a pedigree and meta-analysis

Association between the p.V37I variant of GJB2 and hearing loss: a pedigree and meta-analysis

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

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

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