Skip Navigation


Human Molecular Genetics Advance Access originally published online on December 8, 2003
This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow All Versions of this Article:
13/3/315    most recent
ddh025v1
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 (47)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Voronina, V. A.
Right arrow Articles by Mathers, P. H.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Voronina, V. A.
Right arrow Articles by Mathers, P. H.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, 2004, Vol. 13, No. 3 315-322
DOI: 10.1093/hmg/ddh025

Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea

Vera A. Voronina1,2,{dagger}, Elena A. Kozhemyakina1,2,{dagger}, Christina M. O'Kernick1,2, Natan D. Kahn3,{ddagger}, Sharon L. Wenger4, John V. Linberg3, Adele S. Schneider6 and Peter H. Mathers1,2,3,5,*

1Sensory Neuroscience Research Center, 2Department of Biochemistry and Molecular Pharmacology, 3Department of Ophthalmology, 4Department of Pathology and 5Department of Otolaryngology, West Virginia University School of Medicine, Morgantown, West Virginia, USA and 6Division of Genetics, Albert Einstein Medical Center, Philadelphia, Pennsylvania, USA

Received September 13, 2003; Accepted November 23, 2003

Anophthalmia and microphthalmia are among the most common ocular birth defects and a significant cause of congenital blindness. The etiology of anophthalmia and microphthalmia is diverse, with multiple genetic mutations associated with each of these conditions, along with potential environmental causes. Based on findings that mutations in the Rx/Rax homeobox genes in mice and fish lead to defects in retinal development and result in animal models of anophthalmia, we screened 75 individuals with anophthalmia and/or microphthalmia for mutations in the human RAX gene. We identified a single proband from this population who is a compound heterozygote for mutations in the RAX gene. This individual carries a truncated allele (Q147X) and a missense mutation (R192Q), both within the DNA-binding homeodomain of the RAX protein, and we have characterized the biochemical properties of these mutations in vitro. Parents and grandparents of the proband were found to be carriers without visible ocular defects, consistent with an autosomal recessive inheritance pattern. This is the first report of genetic mutations in the human RAX gene.

* To whom correspondence should be addressed at: Sensory Neuroscience Research Center, PO Box 9303, West Virginia University School of Medicine, Morgantown, WV 26506-9303, USA. Email: pmathers{at}hsc.wvu.edu


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
 Proc. Natl. Acad. Sci. USAHome page
H. Danno, T. Michiue, K. Hitachi, A. Yukita, S. Ishiura, and M. Asashima
Molecular links among the causative genes for ocular malformation: Otx2 and Sox2 coregulate Rax expression
PNAS, April 8, 2008; 105(14): 5408 - 5413.
[Abstract] [Full Text] [PDF]

Home page
 Br J OphthalmolHome page
P Bakrania, D O Robinson, D J Bunyan, A Salt, A Martin, J A Crolla, A Wyatt, A Fielder, J Ainsworth, A Moore, et al.
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions
Br J Ophthalmol, November 1, 2007; 91(11): 1471 - 1476.
[Abstract] [Full Text] [PDF]

Home page
 Genome ResHome page
H. Kikuta, M. Laplante, P. Navratilova, A. Z. Komisarczuk, P. G. Engstrom, D. Fredman, A. Akalin, M. Caccamo, I. Sealy, K. Howe, et al.
Genomic regulatory blocks encompass multiple neighboring genes and maintain conserved synteny in vertebrates
Genome Res., May 1, 2007; 17(5): 545 - 555.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
B. N. Kennedy, Y. Alvarez, S. E. Brockerhoff, G. W. Stearns, B. Sapetto-Rebow, M. R. Taylor, and J. B. Hurley
Identification of a Zebrafish Cone Photoreceptor-Specific Promoter and Genetic Rescue of Achromatopsia in the nof Mutant
Invest. Ophthalmol. Vis. Sci., February 1, 2007; 48(2): 522 - 529.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
Y. Pan, S. Nekkalapudi, L. E. Kelly, and H. M. El-Hodiri
The Rx-like Homeobox Gene (Rx-L) Is Necessary for Normal Photoreceptor Development.
Invest. Ophthalmol. Vis. Sci., October 1, 2006; 47(10): 4245 - 4253.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
A. L. Evans and P. J. Gage
Expression of the homeobox gene Pitx2 in neural crest is required for optic stalk and ocular anterior segment development
Hum. Mol. Genet., November 15, 2005; 14(22): 3347 - 3359.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
G. Alfano, C. Vitiello, C. Caccioppoli, T. Caramico, A. Carola, M. J. Szego, R. R. McInnes, A. Auricchio, and S. Banfi
Natural antisense transcripts associated with genes involved in eye development
Hum. Mol. Genet., April 1, 2005; 14(7): 913 - 923.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
C Y Gregory-Evans, M J Williams, S Halford, and K Gregory-Evans
Ocular coloboma: a reassessment in the age of molecular neuroscience
J. Med. Genet., December 1, 2004; 41(12): 881 - 891.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
S. Aijaz, B. J. Clark, K. Williamson, V. van Heyningen, D. Morrison, D. FitzPatrick, R. Collin, N. Ragge, A. Christoforou, A. Brown, et al.
Absence of SIX6 Mutations in Microphthalmia, Anophthalmia, and Coloboma
Invest. Ophthalmol. Vis. Sci., November 1, 2004; 45(11): 3871 - 3876.
[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.