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 (19)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by del Castillo, I.
Right arrow Articles by Moreno, F.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by del Castillo, I.
Right arrow Articles by Moreno, F.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, Vol 5, 1383-1387, Copyright © 1996 by Oxford University Press

ARTICLES

A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22

I del Castillo, M Villamar, M Sarduy, L Romero, C Herraiz, FJ Hernandez, M Rodriguez, I Borras, A Montero, J Bellon, MC Tapia and F Moreno
Unidad de Genetica Molecular, Hospital Ramon y Cajal, Madrid, Spain.

Non-syndromic X-linked deafness is highly heterogeneous. At least five different clinical forms have been described, but only two loci have been mapped. Here we report a Spanish family affected by a previously undescribed X-linked form of hearing impairment. Deafness is non- syndromic, sensorineural, and progressive. In affected males, the auditory impairment is first detected at school age, affecting mainly the high frequencies. Later it evolves to become severe to profound, involving all frequencies for adulthood. Carrier females manifest a moderate hearing impairment in the high frequencies, with the onset delayed to the fourth decade of life. Deafness was assumed to be X- linked dominant, with incomplete penetrance and variable expressivity in carrier females. The family was genotyped for a set of microsatellite markers evenly spaced at intervals of about 10 cM. We found evidence of linkage to markers in the Xp22 region (maximum lod score of 5.30 at theta = 0.000 for DXS8036 and for DXS8022). The position of the novel deafness locus (DFN6) was refined by haplotype analysis. Mapping of the breakpoints in two critical recombinants allowed us to define an interval for DFN6, delimited by DXS7108 on the distal side and by DXS7105 on the proximal side, and spanning a genetic distance of about 15 cM.
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
 Arch Otolaryngol Head Neck SurgHome page
B. Arellano, R. Ramirez Camacho, J. R. Garcia Berrocal, M. Villamar, I. del Castillo, and F. Moreno
Sensorineural Hearing Loss and Mondini Dysplasia Caused by a Deletion at Locus DFN3
Arch Otolaryngol Head Neck Surg, September 1, 2000; 126(9): 1065 - 1069.
[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.