ArticleGenes2021
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.
Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 22 citations in OpenAlex.
- Mastering genetics for your clinic: A step-by-step guide.The Journal of allergy and clinical immunology · 2025Review
- Diagnostic yield of whole exome sequencing with targeted gene analysis in prelingual sensorineural hearing loss in Thailand.Scientific reports · 2025Article
- Unraveling the Functional Impact of Splicing Variants in Inherited Hearing Disorders Through Minigene Splicing Assays.Biomedicines · 2025Article
- Identification of known and novel genetic variants in sensorineural hearing loss: insights from whole exome sequencing in Indian families.Molecular biology reports · 2025Article
- Refining the detection of complex rearrangements in 15q15.3 region involving the STRC gene in hereditary hearing loss patients.Journal of human genetics · 2025Article
- Epidemiology and audiologic characteristics of neonatal hearing loss: A cross-sectional study.PloS one · 2025Article
- Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.Scientific reports · 2024Article
- Unraveling the Genetic Basis of Combined Deafness and Male Infertility Phenotypes through High-Throughput Sequencing in a Unique Cohort from South India.Advanced genetics (Hoboken, N.J.) · 2024Article
- Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population.Journal of human genetics · 2024Article
- Advanced Omics Techniques for Understanding Cochlear Genome, Epigenome, and Transcriptome in Health and Disease.Biomolecules · 2023Review
- Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.Journal of human genetics · 2023Article
- The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.Biomedicines · 2023Article
- AFrontiers in genetics · 2023Article
- Spectrum of Genes for Non-International journal of molecular sciences · 2022Article
- De novo variants are a common cause of genetic hearing loss.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
Corrections and comments
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeHearing loss is characterized by an extensive genetic heterogeneity and remains a common disorder in children. Molecular diagnosis is of particular benefit in children, and permits the early identification of clinically-unrecognized hearing loss syndromes, which permits effective clinical management and follow-up, including genetic counselling.
methodsWe performed whole-exome sequencing with the analysis of a panel of 189 genes associated with hearing loss in a prospective cohort of 61 children and 9 adults presenting mainly with isolated hearing loss.
resultsThe overall diagnostic rate using exome sequencing was 47.2% (52.5% in children; 22% in adults). In children with confirmed molecular results, 17/32 (53.2%) showed autosomal recessive inheritance patterns, 14/32 (43.75%) showed an autosomal dominant condition, and one case had X-linked hearing loss. In adults, the two patients showed an autosomal dominant inheritance pattern. Among the 32 children, 17 (53.1%) had nonsyndromic hearing loss and 15 (46.7%) had syndromic hearing loss. One adult was diagnosed with syndromic hearing loss and one with nonsyndromic hearing loss. The most common causative genes were STRC (5 cases), GJB2 (3 cases), COL11A1 (3 cases), and ACTG1 (3 cases).
conclusionsExome sequencing has a high diagnostic yield in children with hearing loss and can reveal a syndromic hearing loss form before other organs/systems become involved, allowing the surveillance of unrecognized present and/or future complications associated with these syndromes.
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