Skip Navigation

This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (68)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Baldwin, C. T.
Right arrow Articles by Bonné-Tamir, B.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Baldwin, C. T.
Right arrow Articles by Bonné-Tamir, B.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© 1995 Oxford University Press

OTHER

Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population

Clinton T. Baldwin1,*, Sari Weiss2, Lindsay A. Farrer3, Anita L. De Stefano3, Ronald Adair1, Barbara Franklyn1, Kenneth K. Kidd4, Michael Korostishevsky2 and Batsheva Bonné-Tamir2

1Center for Human Genetics and Department of Pediatrics 2Department of Human Genetics, Tel Aviv University School of Medicine Tel Aviv, Israel 3Neurology, Epidemiology and Biostatistics, Boston University School of Medicine 80 E. Concord Street Boston, MA 4Department of Human Genetics, Yale University New Haven, CT, USA

*To whom correspondence should be addressed

Received April 27, 1995; Accepted June 5, 1995

Clinically significant hearing loss affects 1 in 1000 infants and it is estimated that at least 50% of these cases are due to a genetic cause. Some forms of inherited deafness are syndromic and affected individuals have a specific pattern of additional features while in other families the deafness is non-syndromic and there is no other recognizable phenotype. Analysis of several large families with syndromic and non-syndromic forms of deafness have been used in genetic linkage analysis to identify genes or gene locations that cause deafness. Here, we describe a large Middle-Eastern Druze family with recessive non-syndromic deafness and demonstrate linkage between deafness in this family and human chromosome 7q31 with a lod score exceeding 5. 5. This is the first evidence for a gene at this location that causes deafness. In addition, we found that deafness in three other Druze pedigrees, one related to the linked family, is not linked to this chromosomal location. This suggests that there are multiple nonallelic mutations for deafness in this genetic isolate.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 J. Med. Genet.Home page
S P Pryor, A C Madeo, J C Reynolds, N J Sarlis, K S Arnos, W E Nance, Y Yang, C K Zalewski, C C Brewer, J A Butman, et al.
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities
J. Med. Genet., February 1, 2005; 42(2): 159 - 165.
[Full Text] [PDF]

Home page
 J. Med. Genet.Home page
S Modamio-Hoybjor, M A Moreno-Pelayo, A Mencia, I del Castillo, S Chardenoux, D Morais, M Lathrop, C Petit, and F Moreno
A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci
J. Med. Genet., February 1, 2004; 41(2): e14 - 14.
[Full Text] [PDF]

Home page
 Hum Mol GenetHome page
L. A. Farrer, A. Bowirrat, R. P. Friedland, K. Waraska, A. D. Korczyn, and C. T. Baldwin
Identification of multiple loci for Alzheimer disease in a consanguineous Israeli-Arab community
Hum. Mol. Genet., February 15, 2003; 12(4): 415 - 422.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
D. Sterling, R. A. F. Reithmeier, and J. R. Casey
A Transport Metabolon. FUNCTIONAL INTERACTION OF CARBONIC ANHYDRASE II AND CHLORIDE/BICARBONATE EXCHANGERS
J. Biol. Chem., December 14, 2001; 276(51): 47886 - 47894.
[Abstract] [Full Text] [PDF]

Home page
 Physiol. Rev.Home page
D. Markovich
Physiological Roles and Regulation of Mammalian Sulfate Transporters
Physiol Rev, October 1, 2001; 81(4): 1499 - 1533.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
L. A. Everett and EricD. Green
A family of mammalian anion transportersand their involvement in human genetic diseases
Hum. Mol. Genet., September 1, 1999; 8(10): 1883 - 1891.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
P. Kopp, O. K. Arseven, L. Sabacan, T. Kotlar, J. Dupuis, H. Cavaliere, C. L. S. Santos, J. L. Jameson, and G. Medeiros-Neto
Phenocopies for Deafness and Goiter Development in a Large Inbred Brazilian Kindred with Pendred's Syndrome Associated with a Novel Mutation in the PDS Gene
J. Clin. Endocrinol. Metab., January 1, 1999; 84(1): 336 - 341.
[Abstract] [Full Text]

Home page
 Genome ResHome page
J W Touchman, G G Bouffard, L A Weintraub, J R Idol, L Wang, C M Robbins, J C Nussbaum, M Lovett, and E D Green
2006 expressed-sequence tags derived from human chromosome 7-enriched cDNA libraries.
Genome Res., March 1, 1997; 7(3): 281 - 292.
[Abstract] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.