ArticleGenetics in medicine : official journal of the American College of Medical Genetics2010
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 133 papers, 2 of them syntheses that pooled it.
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Who cites it
133 citing papers in PubMed, 2 syntheses or guidelines pooled it, 269 citations in OpenAlex.
- Cochlear implantation in deafblind patients: a systematic review and meta-analysis.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026Pooled it
- Racial and ethnic disparities in genetic testing for hearing loss: a systematic review and synthesis.Human genetics · 2022Pooled it
- Heimler Syndrome Caused by NovelGenes · 2026Article
- Exploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health.Cellular and molecular life sciences : CMLS · 2026Article
- Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Early retinal electrophysiology changes in quinine overdose.Documenta ophthalmologica. Advances in ophthalmology · 2025Article
- Identification of a variant in the USH1G gene in a family with Usher syndromeBiomedica : revista del Instituto Nacional de Salud · 2025Article
- A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic Targets.American journal of medical genetics. Part C, Seminars in medical genetics · 2025Article
- Haploinsufficiency of Whrn Contributes to Progressive Sensorineural Hearing Loss in C57BL6 Mice.Journal of the Association for Research in Otolaryngology : JARO · 2025Article
- Detailed Clinical, Ophthalmic, and Genetic Characterization of MYO7A-Associated Usher Syndrome.Investigative ophthalmology & visual science · 2025Article
- Current approaches for Usher syndrome disease models and developing therapies.Frontiers in cell and developmental biology · 2025Review
- Mutation of beta-tubulin 4B gene (Molecular vision · 2025Article
- Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.Molecular therapy. Nucleic acids · 2024Article
- A rare transcript homozygous variants in CLRN1(USH3A) causes Usher syndrome type 3 in a Chinese family.Orphanet journal of rare diseases · 2024Article
- Genotype Characterization and MiRNA Expression Profiling in Usher Syndrome Cell Lines.International journal of molecular sciences · 2024Article
- Comparison of Worldwide Disease Prevalence and Genetic Prevalence of Inherited Retinal Diseases and Variant Interpretation Considerations.Cold Spring Harbor perspectives in medicine · 2024Review
- Dual AAV-based PCDH15 gene therapy achieves sustained rescue of visual function in a mouse model of Usher syndrome 1F.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Evaluation of Sleep Quality and Fatigue in Patients with Usher Syndrome Type 2a.Ophthalmology science · 2023Article
- Hearing Loss with Vision Impairment: Usher Syndrome. A Case of the East Democratic Republic of Congo.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2023Article
- Article
73 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
purposeUsher syndrome is a major cause of genetic deafness and blindness. The hearing loss is usually congenital and the retinitis pigmentosa is progressive and first noticed in early childhood to the middle teenage years. Its frequency may be underestimated. Newly developed molecular technologies can detect the underlying gene mutation of this disorder early in life providing estimation of its prevalence in at risk pediatric populations and laying a foundation for its incorporation as an adjunct to newborn hearing screening programs.
methodsA total of 133 children from two deaf and hard of hearing pediatric populations were genotyped first for GJB2/6 and, if negative, then for Usher syndrome. Children were scored as positive if the test revealed > or =1 pathogenic mutations in any Usher gene.
resultsFifteen children carried pathogenic mutations in one of the Usher genes; the number of deaf and hard of hearing children carrying Usher syndrome mutations was 15/133 (11.3%). The population prevalence was estimated to be 1/6000.
conclusionUsher syndrome is more prevalent than has been reported before the genome project era. Early diagnosis of Usher syndrome has important positive implications for childhood safety, educational planning, genetic counseling, and treatment. The results demonstrate that DNA testing for Usher syndrome is feasible and may be a useful addition to newborn hearing screening programs.
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