Trial reportGenetic testing and molecular biomarkers2014
Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.
Trial report in Genetic testing and molecular biomarkers, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 31 citations in OpenAlex.
- A 250-kb Microdeletion Identified in Chromosome 16 Is Associated With Non-Syndromic Sensorineural Hearing Loss in a South Indian Consanguineous Family.Journal of audiology & otology · 2025Article
- The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar.Scientific reports · 2024Article
- Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings.Human genetics · 2022Review
- Variant analysis of 92 Chinese Han families with hearing loss.BMC medical genomics · 2022Article
- Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.Scientific reports · 2022Article
- Review
- Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida.Genes · 2020Article
- Article
- 'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22.Journal of genetics · 2019Article
- Clarification of glycosylphosphatidylinositol anchorage of OTOANCORIN and human OTOA variants associated with deafness.Human mutation · 2019Article
- FOXF2 is required for cochlear development in humans and mice.Human molecular genetics · 2019Article
- Dysfunction ofProceedings of the National Academy of Sciences of the United States of America · 2019Article
- Hereditary hearing loss SNP-microarray pilot study.BMC research notes · 2018Article
- Article
- The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.European journal of human genetics : EJHG · 2017Article
- Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation.PloS one · 2017Article
- Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data.Molecular cytogenetics · 2017Article
- Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss.Scientific reports · 2016Article
- Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family.Human genome variation · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
Abstract
Genetic variants account for more than half of the cases with congenital or prelingual onset hearing loss. Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common subgroup. Whole-exome sequencing (WES) has been shown to be effective detecting deafness-causing single-nucleotide variants (SNVs) and insertion/deletions (INDELs). After analyzing the WES data for causative SNVs or INDELs involving previously reported deafness genes in 78 families with ARNSHL, we searched for copy number variants (CNVs) through two different tools in 24 families that remained unresolved. We detected large homozygous deletions in STRC and OTOA in single families. Thus, causative CNVs in known deafness genes explain 2 out of 78 (2.6%) families in our sample set. We conclude that CNVs can be reliably detected through WES and should be the part of pipelines used to clarify genetic basis of hearing loss.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.