The DOI matches its Crossref record; 26 of the 26 references it cites were found in a registry or an index.
Forty-six genes causing nonsyndromic hearing impairment: Which ones should be analyzed in DNA diagnostics?
Open accessAbstract
Hearing impairment is the most common sensory disorder, present in 1 of every 500 newborns. With 46 genes implicated in nonsyndromic hearing loss, it is also an extremely heterogeneous trait. Here, we categorize for the first time all mutations reported in nonsyndromic deafness genes, both worldwide and more specifically in Caucasians. The most frequent genes implicated in autosomal recessive nonsyndromic hearing loss are GJB2, which is responsible for more than half of cases, followed by SLC26A4, MYO15A, OTOF, CDH23 and TMC1. None of the genes associated with autosomal dominant nonsyndromic hearing loss accounts for a preponderance of cases. Mutations are somewhat more frequently reported in WFS1, KCNQ4, COCH and GJB2. Only a minority of these genes is currently included in genetic diagnostics, the selection criteria typically reflecting: 1) high frequency as a cause of deafness (i.e. GJB2); 2) association with another recognizable feature (i.e. SLC26A4 and enlarged vestibular aqueduct); or 3) a recognizable audioprofile (i.e. WFS1). New and powerful DNA sequencing technologies have been developed over the past few years, but have not yet found their way into DNA diagnostics. Implementing these technologies is likely to happen within the next 5 years, and will cause a breakthrough in terms of power and cost efficiency. It will become possible to analyze most - if not all - deafness genes, as opposed to one or a few genes currently. This ability will greatly improve DNA diagnostics, provide epidemiological data on gene-based mutation frequencies, and reveal novel genotype-phenotype correlations.
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Cites
Joint Committee on Infant Hearing (2007) · Pediatrics · doi:10.1542/peds.2007-2333 · Cited by 2,056
Review and meta‐analysis of the epidemiology of congenital cytomegalovirus (CMV) infection
Kenneson, A., & Cannon, M. J. (2007) · Reviews in Medical Virology · doi:10.1002/rmv.535 · Cited by 1,720
Newborn Hearing Screening — A Silent Revolution
Morton, C. C., & Nance, W. E. (2006) · New England Journal of Medicine · doi:10.1056/nejmra050700 · Cited by 1,686
A Deletion Involving the Connexin 30 Gene in Nonsyndromic Hearing Impairment
del Castillo, I., Villamar, M., Moreno-Pelayo, M. A., del Castillo, F. J., Álvarez, A., Tellería, D., Menéndez, I., & Moreno, F. (2002) · New England Journal of Medicine · doi:10.1056/nejmoa012052 · Cited by 585
GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study
Snoeckx, R. L., Huygen, P. L. M., Feldmann, D., Marlin, S., Denoyelle, F., Waligora, J., Mueller-Malesinska, M., Pollak, A., Ploski, R., Murgia, A., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/497996 · Cited by 552
Self-citationMutations in the Connexin 26 Gene (GJB2) among Ashkenazi Jews with Nonsyndromic Recessive Deafness
Morell, R. J., Kim, H. J., Hood, L. J., Goforth, L., Friderici, K., Fisher, R., Van Camp, G., Berlin, C. I., Oddoux, C., Ostrer, H., et al. (1998) · New England Journal of Medicine · doi:10.1056/nejm199811193392103 · Cited by 540
Self-citationHereditary Hearing Loss and its Syndromes
Reardon, W. (1995) · Journal of Medical Genetics · doi:10.1136/jmg.32.9.760 · Cited by 508
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review
Kenneson, A., Van Naarden Braun, K., & Boyle, C. (2002) · Genetics in Medicine · doi:10.1097/00125817-200207000-00004 · Cited by 395
Microarray-based genomic selection for high-throughput resequencing
Okou, D. T., Steinberg, K. M., Middle, C., Cutler, D. J., Albert, T. J., & Zwick, M. E. (2007) · Nature Methods · doi:10.1038/nmeth1109 · Cited by 385
Richard, G., Rouan, F., Willoughby, C. E., Brown, N., Chung, P., Ryynänen, M., Jabs, E. W., Bale, S. J., DiGiovanna, J. J., Uitto, J., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/339986 · Cited by 371
Cited by
Rare Variants Create Synthetic Genome-Wide Associations
Dickson, S. P., Wang, K., Krantz, I., Hakonarson, H., & Goldstein, D. B. (2010) · PLoS Biology · doi:10.1371/journal.pbio.1000294 · Cited by 857
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss
Sloan-Heggen, C. M., Bierer, A. O., Shearer, A. E., Kolbe, D. L., Nishimura, C. J., Frees, K. L., Ephraim, S. S., Shibata, S. B., Booth, K. T., Campbell, C. A., et al. (2016) · Human Genetics · doi:10.1007/s00439-016-1648-8 · Cited by 559
Self-citationComprehensive genetic testing for hereditary hearing loss using massively parallel sequencing
Shearer, A. E., DeLuca, A. P., Hildebrand, M. S., Taylor, K. R., Gurrola, J., Scherer, S., Scheetz, T. E., & Smith, R. J. H. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1012989107 · Cited by 340
Self-citationMassively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care
Shearer, A. E., & Smith, R. J. H. (2015) · Otolaryngology–Head and Neck Surgery · doi:10.1177/0194599815591156 · Cited by 144
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Metadata
- Authors
- Hilgert, N., Smith, R. J. H., & Van Camp, G.
- Venue
- Mutation Research/Reviews in Mutation Research
- Publisher
- Elsevier BV
- Published
- 2009-03
- Volume
- 681
- Issue
- 2-3
- Pages
- 189-196
- ISSN
- 1383-5742 (ISSN-L)
- OpenAlex
- W2138261854
- Cited by
- 465
- References
- 26
- FWCI
- 11.02
- Type
- journal article
- Language
- en
- Open access
- green
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