Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Editor

Personal info

View

About

Terms

Javascript disabled

Please enable Javascript support in your browser to use this application.

Instructions on how to enable JavaScript on different browsers can be found here: http://www.google.com/support/bin/answer.py?answer=23852.

[edit this page]

Maugeri, A. et al.

Maugeri, Flothmann, Hemmrich, Ingvast, Jorge, Paloma, Patel, Rozet, Tammur, Testa, Balcells, Bird, Brunner, Hoyng, Metspalu, Simonelli, Allikmets, Bhattacharya, D'Urso, Gonzàlez-Duarte, Kaplan, te Meerman, Santos, Schwartz, Van Camp, Wadelius, Weber, Cremers,

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.

Inherited retinal dystrophies represent the most important cause of vision impairment in adolescence, affecting approximately 1 out of 3000 individuals. Mutations of the photoreceptor-specific gene ABCA4 (ABCR) are a common cause of retinal dystrophy. A number of mutations have been repeatedly reported for this gene, notably the 2588G>C mutation which is frequent in both patients and controls. Here we ascertained the frequency of the 2588G>C mutation in a total of 2343 unrelated random control individuals from 11 European countries and 241 control individuals from the US, as well as in 614 patients with STGD both from Europe and the US. We found an overall carrier frequency of 1 out of 54 in Europe, compared with 1 out of 121 in the US, confirming that the 2588G>C ABCA4 mutation is one of the most frequent autosomal recessive mutations in the European population. Carrier frequencies show an increasing gradient in Europe from South-West to North-East. The lowest carrier frequency, 0 out of 199 (0%), was found in Portugal; the highest, 11 out of 197 (5.5%), was found in Sweden. Haplotype analysis in 16 families segregating the 2588G>C mutation showed four intragenic polymorphisms invariably present in all 16 disease chromosomes and sharing of the same allele for several markers flanking the ABCA4 locus in most of the disease chromosomes. These results indicate a single origin of the 2588G>C mutation which, to our best estimate, occurred between 2400 and 3000 years ago.[1]

References

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. Maugeri, A., Flothmann, K., Hemmrich, N., Ingvast, S., Jorge, P., Paloma, E., Patel, R., Rozet, J.M., Tammur, J., Testa, F., Balcells, S., Bird, A.C., Brunner, H.G., Hoyng, C.B., Metspalu, A., Simonelli, F., Allikmets, R., Bhattacharya, S.S., D'Urso, M., Gonzàlez-Duarte, R., Kaplan, J., te Meerman, G.J., Santos, R., Schwartz, M., Van Camp, G., Wadelius, C., Weber, B.H., Cremers, F.P. Eur. J. Hum. Genet. (2002) [Pubmed]

Annotations and hyperlinks in this abstract are from individual authors of WikiGenes or automatically generated by the WikiGenes Data Mining Engine. The abstract is from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenes Open Access Licence Privacy Policy Terms of Use apsburg

The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.