Bassi, Maria Teresa and Bergen, Arthur A. B. and Bitoun, Pierre and Charles, Stephen J. and Clementi, Maurizio and Gosselin, Richard and Hurst, Jane and Lewis, Richard Alan and Lorenz, Birgit and Meitinger, Thomas and Messiaen, Ludwine and Ramesar, Rajkumar S. and Ballabio, Andrea and Schiaffino, M. Vittoria (2001) Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. HUMAN GENETICS, 108 (1). pp. 51-54. ISSN 0340-6717
Full text not available from this repository. (Request a copy)Abstract
Ocular albinism type 1 (OA1) is an X-linked disorder mainly characterized by congenital nystagmus and photodysphoria, moderate to severe reduction of visual acuity, hypopigmentation of the retina, and the presence of macromelanosomes in the skin and eyes. We have previously isolated the gene for OA1 and characterized its protein product as melanosomal membrane glycoprotein displaying structural and functional features of G protein-coupled receptors. We and others have identified mutations of various types within the OA1 gene in patients with this disorder, including deletions and splice site, frameshift, nonsense, and missense mutations. However, different prevalences of large intragenic deletions have been reported, ranging from 10% to 50% in independent studies. To determine whether these differences might be related to the geographic origin of the OA1 families tested, we performed a further extensive mutation analysis study leading to the identification of pathogenic mutations in 30 unrelated OA1 patients mainly from Europe and North America. These results, together with our earlier mutation reports on OA1, allow us to resolve the apparent discrepancies between previous studies and point to a substantial difference in the frequency of large intragenic deletions in European (<10%) compared with North American (>50%) OA1 families. These observations and our overall refinement of point mutation distribution within the OA1 gene have important implications for the molecular diagnosis of OA1 and for the establishment of any mutation detection program for this disorder.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | MUTATIONS; CLONING; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Abteilung für Pädiatrische Ophthalmologie, Strabismologie und Ophthalmogenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 28 Feb 2022 14:35 |
| Last Modified: | 28 Feb 2022 14:35 |
| URI: | https://pred.uni-regensburg.de/id/eprint/41867 |
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