ArticleExperimental and therapeutic medicine2014
Combination of hearing screening and genetic screening for deafness-susceptibility genes in newborns.
Article in Experimental and therapeutic medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- A meta-analysis and systematic review of the prevalence of mitochondrially encoded 12S RNA in the general population: Is there a role for screening neonates requiring aminoglycosides?African journal of paediatric surgery : AJPSPooled it
- Analysis of combined screening results of the hearing and deafness genes in 10,754 newborns.Open medicine (Warsaw, Poland) · 2026Article
- Application of matrix-assisted laser desorption/ionization time-of flight mass spectrometry in clinical testing and diagnosis.Frontiers in cellular and infection microbiology · 2025Review
- Increased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population.BMC medical genomics · 2024Article
- Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole-exome sequencing.Experimental and therapeutic medicine · 2020Article
- Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population.Genes · 2019Article
- Gene mutation analysis and genetic counseling for patients with non-syndromic hearing loss in Linyi region.Experimental and therapeutic medicine · 2019Article
- A reverse dot blot assay for the screening of twenty mutations in four genes associated with NSHL in a Chinese population.PloS one · 2017Article
- Newborn genetic screening for hearing impairment: a population-based longitudinal study.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Screening for the mitochondrial A1555G mutation among Egyptian patients with non-syndromic, sensorineural hearing loss.International journal of molecular epidemiology and genetics · 2014Article
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The aim of this study was to determine the clinical significance of the results of screening of newborn hearing and the incidence of deafness-susceptibility genes. One thousand newborn babies in the Handan Center Hospital (Handan, China) underwent screening of hearing and deafness-susceptibility genes. The first screening test was carried out using otoacoustic emissions (OAEs). Babies with hearing loss who failed to pass the initial screening were scheduled for rescreening at 42 days after birth. Cord blood was used for the screening of deafness-susceptibility genes, namely the GJB2, SLC26A4 and mitochondrial 12S rRNA (MTRNR1) genes. Among the 1,000 neonates that underwent the first hearing screening, 25 exhibited left-sided hearing loss, 21 exhibited right-sided hearing loss and 15 cases had binaural hearing loss. After rescreening 42 days later, only one of the initial 61 cases exhibited hearing loss under OAE testing. The neonatal deafness gene tests showed two cases with 1555A>G mutation and two cases with 1494C>T mutation of the MTRNR1 gene. In the SLC26A4 gene screening, four cases exhibited the heterozygous IVS7-2A>G mutation and one case exhibited heterozygous 1226G>A mutation. In the GJB2 gene screening, two cases exhibited the homozygous 427C>T mutation and 10 exhibited the heterozygous 235delC mutation. The genetic screening revealed 21 newborns with mutations in the three deafness-susceptibility genes. The overall carrier rate was 2.1% (21/1,000). The association of hearing and gene screening may be the promising screening strategy for the diagnosis of hearing loss.
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