ArticleJournal of translational medicine2009
Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.
Article in Journal of translational medicine, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers, 2 of them syntheses that pooled it.
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Who cites it
78 citing papers in PubMed, 2 syntheses or guidelines pooled it, 153 citations in OpenAlex.
- Carrier rates for recessive monogenic diseases in the Chinese Han population: a systematic review.Human genomics · 2026Pooled it
- Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.Medicine · 2015Pooled it
- Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay.BioMed research international · 2016Trial
- Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China.Genetic testing and molecular biomarkers · 2015Trial
- Bilateral Enlarged Vestibular Aqueduct: Auditory, Genetic and Radiological Characterization, and Benefits of Cochlear Implants.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2025Article
- Identification of a novel POU4F3 frameshift variant in a Chinese family with autosomal dominant hearing loss.European journal of medical research · 2025Article
- Neonatal Hearing Loss Risk Factors and miRNA Biomarkers Identified Through AABR Screening.Journal of multidisciplinary healthcare · 2025Article
- Estimated cost-effectiveness of early screening strategies for newborn hearing impairment using a Markov model.Frontiers in public health · 2025Article
- Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay.BMC medical genomics · 2024Article
- Impairment of α-tubulin and F-actin interactions of GJB3 induces aneuploidy in urothelial cells and promotes bladder cancer cell invasion.Cellular & molecular biology letters · 2024Article
- A novel method for detecting nine hotspot mutations of deafness genes in one tube.Scientific reports · 2024Article
- Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss.BMC medical genomics · 2024Article
- Exonic Deletions and Deep Intronic Variants of theHuman mutation · 2024Article
- Genetic screening of common genetic deafness in 60,391 women of childbearing age and intervention of birth defects.Archives of medical science : AMS · 2024Article
- Prevalence and Clinical Characteristics of Mitochondrial DNA Mutations in Korean Patients With Sensorineural Hearing Loss.Journal of Korean medical science · 2023Article
- Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of theFrontiers in genetics · 2023Article
- Selection of Diagnostically Significant Regions of theInternational journal of molecular sciences · 2022Article
- A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family.BMC medical genomics · 2022Article
- Presentation of potential genes and deleterious variants associated with non-syndromic hearing loss: a computational approach.Genomics & informatics · 2022Article
- Variant analysis of 92 Chinese Han families with hearing loss.BMC medical genomics · 2022Article
18 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundEvery year, 30,000 babies are born with congenital hearing impairment in China. The molecular etiology of hearing impairment in the Chinese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we performed a comprehensive investigation of the molecular etiology of nonsyndromic deafness in two typical areas from northern and southern China.
methodsA total of 284 unrelated school children with hearing loss who attended special education schools in China were enrolled in this study, 134 from Chifeng City in Inner Mongolia and the remaining 150 from Nangtong City in JiangSu Province. Screening was performed for GJB2, GJB3, GJB6, SLC26A4, 12S rRNA, and tRNAser(UCN) genes in this population. All patients with SLC26A4 mutations or variants were subjected to high-resolution temporal bone CT scan to verify the enlarged vestibular aqueduct.
resultsMutations in the GJB2 gene accounted for 18.31% of the patients with nonsyndromic hearing loss, 1555A>G mutation in mitochondrial DNA accounted for 1.76%, and SLC26A4 mutations accounted for 13.73%. Almost 50% of the patients with nonsyndromic hearing loss in these typical Chinese areas carried GJB2 or SLC26A4 mutations. No significant differences in mutation spectrum or prevalence of GJB2 and SLC26A4 were found between the two areas.
conclusionIn this Chinese population, 54.93% of cases with hearing loss were related to genetic factors. The GJB2 gene accounted for the etiology in about 18.31% of the patients with hearing loss, SLC26A4 accounted for about 13.73%, and mtDNA 1555A>G mutation accounted for 1.76%. Mutations in GJB3, GJB6, and mtDNA tRNAser(UCN) were not common in this Chinese cohort. Conventionally, screening is performed for GJB2, SLC26A4, and mitochondrial 12S rRNA in the Chinese deaf population.
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