Human Molecular Genetics, 2002, Vol. 11, No. 10 1229-1240
© 2002 Oxford University Press
Genetics, genomics and gene discovery in the auditory system
Departments of Obstetrics, Gynecology, and Reproductive Biology and Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA
Received April 5, 2002; Accepted April 10, 2002
The sounds of silence have forever been broken as genetics and genomics approaches in human and model organisms have provided a powerful and rapid entry into gene discovery in the auditory system. An understanding of the complexities and beauty of the biological process of hearing itself is unfolding as genes underlying hereditary hearing impairment are identified. Genes involved in modifying hearing are also being found, and will be critical to a full comprehension of genotype–phenotype relationships. Investigations in the auditory system will provide important insight into how the nervous system decodes molecular information. Deafness represents a common sensory disorder that can interfere dramatically in the acquisition of speech and language in children, and in the quality of life for a growing aged population. As newborn screening for hearing impairment is being implemented in many birth hospitals, the prospects for precise clinical diagnosis, appropriate genetic counseling and proper medical management for auditory disorders has never been at a more exciting crossroad.
* To whom correspondence should be addressed at: Department of Pathology, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA. Tel: 617 732 7980; Fax: 617 738 6996; Email: cmorton{at}partners.org
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  Y. Qian and M.-X. Guan Interaction of Aminoglycosides with Human Mitochondrial 12S rRNA Carrying the Deafness-Associated Mutation Antimicrob. Agents Chemother., November 1, 2009; 53(11): 4612 - 4618. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R Li, J H Greinwald Jr, L Yang, D I Choo, R J Wenstrup, and M-X Guan Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss J. Med. Genet., August 1, 2004; 41(8): 615 - 620. [Full Text] [PDF]
|
|
|
|
|
|
Q J Wang, C Y Lu, N Li, S Q Rao, Y B Shi, D Y Han, X Li, J Y Cao, L M Yu, Q Z Li, et al. Y-linked inheritance of non-syndromic hearing impairment in a large Chinese family J. Med. Genet., June 1, 2004; 41(6): e80 - e80. [Full Text] [PDF]
|
|
|
|
 |
|
 S. Sidi, E. Busch-Nentwich, R. Friedrich, U. Schoenberger, and T. Nicolson gemini Encodes a Zebrafish L-Type Calcium Channel That Localizes at Sensory Hair Cell Ribbon Synapses J. Neurosci., April 28, 2004; 24(17): 4213 - 4223. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 E. Busch-Nentwich, C. Sollner, H. Roehl, and T. Nicolson The deafness gene dfna5 is crucial for ugdh expression and HA production in the developing ear in zebrafish Development, February 15, 2004; 131(4): 943 - 951. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 X. Z. Liu, X. M. Ouyang, X. J. Xia, J. Zheng, A. Pandya, F. Li, L. L. Du, K. O. Welch, C. Petit, R. J.H. Smith, et al. Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss Hum. Mol. Genet., May 15, 2003; 12(10): 1155 - 1162. [Abstract] [Full Text] [PDF]
|
|