Human Molecular Genetics, Vol 7, 1589-1597, Copyright © 1998 by Oxford University Press
V Kalatzis and C Petit
What would define real progress in the field of deafness research in
fundamental and medical terms? In fundamental terms, progress would be
measured by an improvement in our knowledge of the development and
physiology of the ear. In medical terms, progress would lead to the
division of the broad category of hearing defects into distinct clinical
entities or subclasses, the collection of epidemiological data, the
creation of molecular diagnostic tests, the improvement of genetic
counselling services and the development of new therapeutics. In this
review, we will introduce some general considerations on hereditary hearing
loss and on the structure and function of the ear, present the rapidly
emerging data on the molecular basis of syndromic and non-syndromic forms
of hearing loss and comment on relevant recent progress in this field of
research. Generally speaking, the isolation of genes underlying hereditary
hearing loss has, as yet, had little impact on our understanding of the
biology of the ear, whereas it has made major contributions to the medical
field, in particular due to the recognition of two genes, Cx26 and
mitochondrial 12S rRNA , as frequently underlying cases of non-syndromic
hearing impairment.
REVIEWS
The fundamental and medical impacts of recent progress in research on hereditary hearing loss
Unite de Genetique des Deficits Sensoriels, CNRS URA 1968, Institut Pasteur, 25 rue du Docteur Roux, 75724 Paris Cedex 15, France.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  M. Elbracht, J. Senderek, T. Eggermann, C. Thurmer, J. Park, M. Westhofen, and K. Zerres Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings J. Med. Genet., June 1, 2007; 44(6): e81 - e81. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. H. Kemperman, E. M. R. De Leenheer, P. L. M. Huygen, E. van Wijk, G. van Duijnhoven, F. P. M. Cremers, H. Kremer, and C. W. R. J. Cremers A Dutch Family With Hearing Loss Linked to the DFNA20/26 Locus: Longitudinal Analysis of Hearing Impairment Arch Otolaryngol Head Neck Surg, March 1, 2004; 130(3): 281 - 288. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. T.W. Choo-Kang, S. Lynn, G. A. Taylor, M. E. Daly, S. S. Sihota, T. M. Wardell, P. F. Chinnery, D. M. Turnbull, and M. Walker Defining the Importance of Mitochondrial Gene Defects in Maternally Inherited Diabetes by Sequencing the Entire Mitochondrial Genome Diabetes, July 1, 2002; 51(7): 2317 - 2320. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M.-X. Guan, N. Fischel-Ghodsian, and G. Attardi Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation Hum. Mol. Genet., March 1, 2001; 10(6): 573 - 580. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 W. Henn Consumerism in prenatal diagnosis: a challenge for ethical guidelines J. Med. Ethics, December 1, 2000; 26(6): 444 - 446. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Frydman, S. Vreugde, B. I. Nageris, S. Weiss, O. Vahava, and K. B. Avraham Clinical Characterization of Genetic Hearing Loss Caused by a Mutation in the POU4F3 Transcription Factor Arch Otolaryngol Head Neck Surg, May 1, 2000; 126(5): 633 - 637. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. Morlé, M. Bozon, N. Alloisio, P. Latour, A. Vandenberghe, H. Plauchu, L. Collet, P. Edery, J. Godet, and G. Lina-Granade A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss J. Med. Genet., May 1, 2000; 37(5): 368 - 370. [Abstract] [Full Text]
|
|
|
|
 |
|
 P. J. Willems Genetic Causes of Hearing Loss N. Engl. J. Med., April 13, 2000; 342(15): 1101 - 1109. [Full Text] [PDF]
|
|
|
|
 |
|
 T. Kharkovets, J.-P. Hardelin, S. Safieddine, M. Schweizer, A. El-Amraoui, C. Petit, and T. J. Jentsch From the Cover: KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway PNAS, April 11, 2000; 97(8): 4333 - 4338. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. A. Everett, H. Morsli, D. K. Wu, and E. D. Green Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear PNAS, August 17, 1999; 96(17): 9727 - 9732. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. N. Alagramam, H. Y. Kwon, N. L. A. Cacheiro, L. Stubbs, C. G. Wright, L. C. Erway, and R. P. Woychik A New Mouse Insertional Mutation That Causes Sensorineural Deafness and Vestibular Defects Genetics, August 1, 1999; 152(4): 1691 - 1699. [Abstract] [Full Text]
|
|