Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
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 ISI Web of Science
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 Manolis, E. N.
Right arrow Articles by Seidman, J. G.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Manolis, E. N.
Right arrow Articles by Seidman, J. G.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, Vol 5, 1047-1050, Copyright © 1996 by Oxford University Press

ARTICLES

A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13

EN Manolis, N Yandavi, JB Nadol Jr, RD Eavey, M McKenna, S Rosenbaum, U Khetarpal, C Halpin, SN Merchant, GM Duyk, C MacRae, CE Seidman and JG Seidman
Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.

We report a novel locus responsible for postlingual progressive sensorineural hearing loss (designated DFNA9) that maps to chromosome 14q12-13. A large kindred with autosomal dominant transmission of non- syndromic hearing loss was clinically studied. Hearing in affected individuals deteriorated at approximately 20 years of age and progressed to anacusis in the fifth decade. A random genome-wide search using polymorphic short tandem repeats demonstrated linkage with D14S121 (maximum two point LOD score = 6.19, theta = 0). Haplotype analysis of recombination events defined a 9 cM disease interval, between D14S252 and D14S49.
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. Immunol.Home page
M.-J. Baek, H.-M. Park, J. M. Johnson, C. Z. Altuntas, D. Jane-wit, R. Jaini, C. A. Solares, D. M. Thomas, E. J. Ball, N. G. Robertson, et al.
Increased Frequencies of Cochlin-Specific T Cells in Patients with Autoimmune Sensorineural Hearing Loss
J. Immunol., September 15, 2006; 177(6): 4203 - 4210.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
D Yan, X Ke, S H Blanton, X M Ouyang, A Pandya, L L Du, W E Nance, and X Z Liu
A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12
J. Med. Genet., February 1, 2006; 43(2): 170 - 174.
[Abstract] [Full Text] [PDF]

Home page
 EndocrinologyHome page
C. I. Rodriguez, J.-G. Cheng, L. Liu, and C. L. Stewart
Cochlin, a Secreted von Willebrand Factor Type A Domain-Containing Factor, Is Regulated by Leukemia Inhibitory Factor in the Uterus at the Time of Embryo Implantation
Endocrinology, March 1, 2004; 145(3): 1410 - 1418.
[Abstract] [Full Text] [PDF]

Home page
 Arch Otolaryngol Head Neck SurgHome page
S. J. H. Bom, E. M. R. De Leenheer, F. X. Lemaire, M. H. Kemperman, W. I. M. Verhagen, H. A. M. Marres, H. P. M. Kunst, R. J. H. Ensink, A. J. Bosman, G. Van Camp, et al.
Speech Recognition Scores Related to Age and Degree of Hearing Impairment in DFNA2/KCNQ4 and DFNA9/COCH
Arch Otolaryngol Head Neck Surg, September 1, 2001; 127(9): 1045 - 1048.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
E. FRANSEN, M. VERSTREKEN, S. J H BOM, F. LEMAIRE, M. H KEMPERMAN, Y. J M DE KOK, F. L WUYTS, W. I M VERHAGEN, P. L M HUYGEN, W. T MCGUIRT, et al.
A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation
J. Med. Genet., January 1, 2001; 38(1): 61 - 65.
[Full Text]

Home page
 Arch NeurolHome page
W. I. M. Verhagen, S. J. H. Bom, P. L. M. Huygen, E. Fransen, G. Van Camp, and C. W. R. J. Cremers
Familial Progressive Vestibulocochlear Dysfunction Caused by a COCH Mutation (DFNA9)
Arch Neurol, July 1, 2000; 57(7): 1045 - 1047.
[Abstract] [Full Text] [PDF]

Home page
 NEJMHome page
P. J. Willems
Genetic Causes of Hearing Loss
N. Engl. J. Med., April 13, 2000; 342(15): 1101 - 1109.
[Full Text] [PDF]

Home page
 J. Med. Genet.Home page
G. Van Camp, H. Kunst, K. Flothmann, W. McGuirt, J. Wauters, H. Marres, M. Verstreken, I. N Bespalova, M. Burmeister, P. H Van de Heyning, et al.
A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus
J. Med. Genet., July 1, 1999; 36(7): 532 - 536.
[Abstract] [Full Text]

Home page
 Proc. Natl. Acad. Sci. USAHome page
S. Heller, C. A. Sheane, Z. Javed, and A. J. Hudspeth
Molecular markers for cell types of the inner ear and candidate genes for hearing disorders
PNAS, September 15, 1998; 95(19): 11400 - 11405.
[Abstract] [Full Text] [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.