J Med Genet

HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH REGISTER


[Advanced]
The most recent version of this article was published on 1 January 2007

J Med Genet. Published Online First: 6 July 2006. doi:10.1136/jmg.2006.044644
Copyright © 2006 by the BMJ Publishing Group Ltd.
This Article
Right arrow Full Text (Rapid PDF)
Right arrow Correction (v44,p407)
Right arrow All Versions of this Article:
jmg.2006.044644v1
44/1/64    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
Services
Right arrow Email this link to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Add article to my folders
Right arrow Download to citation manager
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Jiao, X.
Right arrow Articles by Kannabiran, C.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Jiao, X.
Right arrow Articles by Kannabiran, C.
Right arrowPubmed/NCBI databases
*Gene*GEO Profiles
*HomoloGene*OMIM
*Protein*UniGene
*UniSTS

Letters to JMG

Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11

Xiaodong Jiao 1, Afia Sultana 2, Prashant Garg 3, Balasubramanya Ramamurthy 4, Geeta Kashyap Vemuganti 5, Nibaran Gangopadhyay 5, James Fielding Hejtmancik 6 and Chitra Kannabiran 5*

1 Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, Maryland, USA, United States
2 L. V. Prasad Eye Institute, Hyderabad, India, India
3 L.V. Prasad Eye Institute, Hyderabad, India, India
4 L. V. Prasad Eye Institute, Hyderabad, India
5 L.V. Prasad Eye Institute, Hyderabad, India
6 Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, Maryland, US, India

* To whom correspondence should be addressed. E-mail: chitra{at}lvpei.org.

Accepted 1 July 2006


*   Abstract

Purpose: To map and identify the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2, OMIM 217700), a disorder characterized by diffuse bilateral corneal clouding that may lead to visual impairment and requiring corneal transplantation.

Methods: Members of 16 families with AR-CHED were genotyped for 13 microsatellite markers at the CHED2 locus on chromosome 20p13-12. Two-point linkage analysis was carried out using the FASTLINK version of the MLINK program. Mutation screening was carried out by PCR amplification of exons and flanking regions followed by direct automated sequencing.

Results: Linkage and haplotype analysis placed the disease locus within a 2.2 cM (1.3 Mb) interval flanked by D20S198 and D20S889 including SLC4A11. The maximum lod score of 11.1 was obtained with D20S117 at q = 0. Sequencing of SLC4A11 showed homozygous mutations in affected individuals from 12 of 16 families.

Conclusion: These results confirm that mutations in the SLC4A11 gene cause AR-CHED.

Keywords: CHED2, SLC4A11, corneal dystrophy, genetics, mapping




This article has been cited by other articles:


Home page
 Arch OphthalmolHome page
B. Hemadevi, R. A. Veitia, M. Srinivasan, J. Arunkumar, N. V. Prajna, C. Lesaffre, and P. Sundaresan
Identification of Mutations in the SLC4A11 Gene in Patients With Recessive Congenital Hereditary Endothelial Dystrophy
Arch Ophthalmol, May 1, 2008; 126(5): 700 - 708.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
E. N. Vithana, P. E. Morgan, V. Ramprasad, D. T.H. Tan, V. H.K Yong, D. Venkataraman, A. Venkatraman, G. H.F. Yam, S. Nagasamy, R. W.K. Law, et al.
SLC4A11 mutations in Fuchs endothelial corneal dystrophy
Hum. Mol. Genet., March 1, 2008; 17(5): 656 - 666.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
J. Desir, G. Moya, O. Reish, N. Van Regemorter, H. Deconinck, K. L David, F. M Meire, and M. J Abramowicz
Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy
J. Med. Genet., May 1, 2007; 44(5): 322 - 326.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH REGISTER
Terms and conditions relating to subscriptions purchased online  ¦  Website terms and conditions  ¦  Privacy policy
Copyright © 2006 by the BMJ Publishing Group Ltd.