IOVS Advertisement
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

Originally published In Press as doi:10.1167/iovs.08-3006 on April 15, 2009
 (Investigative Ophthalmology and Visual Science. 2009;50:4142-4145.)
© 2009 by The Association for Research in Vision and Ophthalmology, Inc.
doi:10.1167/iovs.08-3006
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow All Versions of this Article:
iovs.08-3006v1
50/9/4142    most recent
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
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 Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via Web of Science (1)
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Aldahmesh, M. A.
Right arrow Articles by Alkuraya, F. S.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Aldahmesh, M. A.
Right arrow Articles by Alkuraya, F. S.

Mutational Spectrum of SLC4A11 in Autosomal Recessive CHED in Saudi Arabia

Mohammed A. Aldahmesh,1 Arif O. Khan,1,2 Brian F. Meyer,1 and Fowzan S. Alkuraya1,3,4

1From the Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; the 2Department of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia; the 3Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia; and the 4Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

PURPOSE. To determine the extent of allelic, and possibly locus, heterogeneity in congenital hereditary endothelial dystrophy (CHED, MIM 217700) in patients from a highly consanguineous Saudi population.

METHODS. Homozygosity was determined at the solute carrier family 4, sodium bicarbonate transporter-like, member 11 (SLC4A11) locus followed by full sequencing of SLC4A11 in 10 patients representing seven unrelated families.

RESULTS. All 10 patients were homozygous at the SLC4A11 locus. Seven mutations were identified, five of which are novel, including one likely intronic splicing enhancer mutation, all predicted to result in reduction or loss of bicarbonate transporter-related protein 1 (BTR1).

CONCLUSIONS. In this small cohort, no evidence was found of genetic heterogeneity in CHED and that loss of BTR1 function is the most likely mutational mechanism.






HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2009 by the Association for Research in Vision and Ophthalmology