Audioprofile-Directed Successful Mutation Analysis in a DFNA2/<i>KCNQ4</i> (p.Leu274His) Family

Heer, Angelina; Schraders, Margit; Oostrik, Jaap; Hoefsloot, Lies H.; Huygen, P.L.M.; Cremers, C.W.R.J.

doi:10.1177/000348941112000405

Cited by 12 publications

(13 citation statements)

References 27 publications

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“…When predictions are complete, results are made available to users online and by e‐mail. Successful application of this website to genetic hearing loss has been demonstrated by the authors and others [ de Heer et al., ].…”

Section: Methodsmentioning

confidence: 99%

AudioGene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening

et al. 2013

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Autosomal Dominant Nonsyndromic Hearing Loss (ADNSHL) is a common and often progressive sensory deficit. ADNSHL displays a high degree of genetic heterogeneity, and varying rates of progression. Accurate, comprehensive and cost-effective genetic testing facilitates genetic counseling and provides valuable prognostic information to affected individuals. In this paper, we describe the algorithm underlying AudioGene, a software system employing machine-learning techniques that utilizes phenotypic information derived from audiograms to predict the genetic cause of hearing loss in persons segregating ADNSHL. Our data show that AudioGene has an accuracy of 68% in predicting the causative gene within its top three predictions, as compared to 44% for a Majority classifier. We also show that AudioGene remains effective for audiograms with high levels of clinical measurement noise. We identify audiometric outliers for each genetic locus and hypothesize that outliers may reflect modifying genetic effects. As personalized genomic medicine becomes more common, AudioGene will be increasingly useful as a phenotypic filter to assess pathogenicity of variants identified by massively parallel sequencing.

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Section: Methodsmentioning

confidence: 99%

AudioGene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening

et al. 2013

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“…AudioGene is a commercially available machine-based audioprofiling system that analyzes audiograms of small families with ADHL to predict the most probable defective genes and loci for mutation screening. However, it is only available for AD patterns of HL [47,52]. Although methods to predict mutated genes in AR pattern of HL have been introduced [51], they are not commercially available yet.…”

Section: Diagnostic Methods and Screeningmentioning

confidence: 99%

Genetics of hearing loss: where are we standing now?

Mahboubi

Dwabe

Fradkin

et al. 2012

Eur Arch Otorhinolaryngol

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Hearing loss (HL) is the most common sensory impairment and is caused by a broad range of inherited to environmental causes. Inherited HL consists 50-60% of all HL cases. The inherited form of HL is further classified to different categories. More than 300 syndromes and 40 genes have been identified to result in different levels of HL. Although several diagnostic or screening tests have been developed, yet there are controversies around their use.

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“…Later on, it was found that next to mutations in the GJB2 gene, a specific deletion involving part of the GJB6 gene is one of the more frequent alleles (suppl [19][20][21][22]. This deletion has an uneven distribution in different populations; for instance, in China it was found to be present in one population and almost absent in another (suppl 23,24). Although there has been some discussion whether this would present a digenic model, it was proven that the deletion contains a regulatory element for the GJB2 gene; therefore, DFNB1 is a singlegene disorder, with compound heterozygosity instead of double heterozygosity (suppl 25,26).…”

Section: Gjb2 and Gjb6: Dfnb1mentioning

confidence: 99%

Genotype phenotype correlations for hearing impairment: Approaches to management

et al. 2014

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Hearing impairment is an extremely heterogeneous disorder, with both environmental as well as genetic causes. This review describes the known genes involved in non-syndromic hearing impairment and their genotype-phenotype correlations where possible. Furthermore, some of the more frequent syndromic forms of hearing impairment are described, in particular where they overlap with the non-syndromic forms. Given the heterogeneity of the disorder, together with the indistinguishable phenotypes for many of the genes, it is suggested that testing for mutations is performed using massive parallel sequencing techniques, either by a large targeted set of genes or by an exome wide analysis.

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Audioprofile-Directed Successful Mutation Analysis in a DFNA2/KCNQ4 (p.Leu274His) Family

Cited by 12 publications

References 27 publications

AudioGene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening

AudioGene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening

Genetics of hearing loss: where are we standing now?

Genotype phenotype correlations for hearing impairment: Approaches to management

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