Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene
Ute Felbora, Yvonne Mutscha, Franz Grehna, Clemens R Müllerb, Wolfram Kressb
a Augenklinik,
Universität Würzburg, Würzburg, Germany, b Institut für
Humangenetik, Universität Würzburg, Würzburg, Germany
Correspondence to: Wolfram Kress, Institut für Humangenetik, Biozentrum, Am Hubland, D-97074 Würzburg, Germany.
Accepted for publication 6 January 1999
AIMS
To assess the
involvement of the recently identified human homogentisate
1,2-dioxygenase gene (HGO) in alkaptonuria (AKU) in two unrelated
patients with ochronosis of the conjunctiva, sclera, and cornea.
METHODSA mutation
screen of the entire coding region of the HGO gene was performed using
single stranded conformational analysis after polymerase chain reaction
with oligonucleotide primers flanking all 14 exons of the HGO gene.
Fragments showing aberrant mobility were directly sequenced.
RESULTSTwo homozygous
missense mutations, L25P and M368V, were identified, each of which
leads to the replacement of a highly conserved amino acid in the HGO protein.
CONCLUSIONSThe
authors describe a novel mutation, L25P, in the German population and
bring to 18 the total number of known HGO mutations.
© 1999 by British Journal of Ophthalmology
CiteULike 
Complore 
Connotea 
Del.icio.us 
Digg 
Reddit 
Technorati What's this?
This article has been cited by other articles:
-
Barrios, P. C., Font, R. L.
(2004). Pigmented Conjunctival Lesions as Initial Manifestation of Ochronosis. Arch Ophthalmol
122: 1060-1063
[Full Text] -
Rodriguez, J. M., Timm, D. E., Titus, G. P., Beltran-Valero de Bernabe, D., Criado, O., Mueller, H. A., Rodriguez de Cordoba, S., Penalva, M.A.
(2000). Structural and functional analysis of mutations in alkaptonuria. Hum Mol Genet
9: 2341-2350
[Abstract] [Full Text] -
ZATKOVÁ, A, POLÁKOVÁ, H, MICUTKOVÁ, L, ZVARÍK, M, BOSAK, V, FERÁKOVÁ, E, MATUSEK, J, FERÁK, V, KÁDASI, L
(2000). Novel mutations in the homogentisate- 1,2-dioxygenase gene identified in Slovak patients with alkaptonuria. J. Med. Genet.
37: 539-542
[Full Text] -
PORFIRIO, B., CHIARELLI, I., GRAZIANO, C., MANNONI, A., MORRONE, A., ZAMMARCHI, E., DE BERNABÉ, D. B.-V., DE CÓRDOBA, S. R.
(2000). Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene. J. Med. Genet.
37: 309-312
[Full Text]
- Full Text
- Full Text (PDF)
- Submit a response
- Alert me when this article is cited
- Alert me when eLetters are posted
- Alert me if a correction is posted
- Citation Map
Services
- Email this link to a friend
- Similar articles in this journal
- Similar articles in PubMed
- Add article to my folders
- Download to citation manager
- Request Permissions
Citing Articles
Google Scholar
PubMed
Bookmark with
Register for free content
The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.
Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.
