ArticlePloS one2012
Challenges in whole exome sequencing: an example from hereditary deafness.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 47 citations in OpenAlex.
- Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2.European journal of human genetics : EJHG · 2024Article
- Epigenetics of Genes Preferentially Expressed in Dissimilar Cell Populations: Myoblasts and Cerebellum.Epigenomes · 2024Article
- A review of the mechanisms underlying the role of theFrontiers in synaptic neuroscience · 2022Review
- Genetic Variant c.245A>G (p.Asn82Ser) inGenes · 2021Article
- A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.BMC medical genetics · 2020Article
- Low incidence ofJournal of genetics · 2020Article
- MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform.Human mutation · 2016Article
- Article
- Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss.BMC genomics · 2014Article
- A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.Journal of human genetics · 2014Article
- Article
- Improved variant calling accuracy by merging replicates in whole-exome sequencing studies.BioMed research international · 2014Article
- [Next-generation sequencing for lung cancer].Zhongguo fei ai za zhi = Chinese journal of lung cancer · 2014Review
- Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.PloS one · 2014Article
- Congenital cataracts: de novo gene conversion event in CRYBB2.Molecular vision · 2014Article
- The application of next-generation sequencing in the autozygosity mapping of human recessive diseases.Human genetics · 2013Review
- Next-generation sequencing in genetic hearing loss.Genetic testing and molecular biomarkers · 2013Review
- Functional proteomics, human genetics and cancer biology of GIPC family members.Experimental & molecular medicine · 2013Review
- SLITRK6 mutations cause myopia and deafness in humans and mice.The Journal of clinical investigation · 2013Article
- Amplification of GC-rich DNA for high-throughput family-based genetic studies.Molecular biotechnology · 2013Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
Whole exome sequencing provides unprecedented opportunities to identify causative DNA variants in rare Mendelian disorders. Finding the responsible mutation via traditional methods in families with hearing loss is difficult due to a high degree of genetic heterogeneity. In this study we combined autozygosity mapping and whole exome sequencing in a family with 3 affected children having nonsyndromic hearing loss born to consanguineous parents. Two novel missense homozygous variants, c.508C>A (p.H170N) in GIPC3 and c.1328C>T (p.T443M) in ZNF57, were identified in the same ∼6 Mb autozygous region on chromosome 19 in affected members of the family. Both variants co-segregated with the phenotype and were absent in 335 ethnicity-matched controls. Biallelic GIPC3 mutations have recently been reported to cause autosomal recessive nonsyndromic sensorineural hearing loss. Thus we conclude that the hearing loss in the family described in this report is caused by a novel missense mutation in GIPC3. Identified variant in GIPC3 had a low read depth, which was initially filtered out during the analysis leaving ZNF57 as the only potential causative gene. This study highlights some of the challenges in the analyses of whole exome data in the bid to establish the true causative variant in Mendelian disease.
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