Abstract
Mutations in the PAX6 gene of Japanese aniridia patients were analyzed. Four types of mutations including one known (474delC) and three novel (786_787ins10, 678_688del11 and 572_575delAATCins14) were found in six patients from four families. A patient with the mutation 572_575delAATCins14 also manifested VATER association. This is the first case of aniridia accompanied by VATER association. All of mutations found in this study are frameshift type, resulting in premature termination of translation. The database for PAX6 gene mutation has been made using a graphical data display system MutationView (http://mutview.dmb.med.keio.ac.jp/).
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Acknowledgments
This work was supported in part by a Grant-in-Aid for Scientific Research on Priority Areas from the Ministry of Education, Culture, Sports, Science and Technology (MEXT) and a Grant-in-Aid for Publication of Scientific Research Results from the Japan Society for the Promotion of Science (JSPS).
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Kawano, T., Wang, C., Hotta, Y. et al. Three novel mutations of the PAX6 gene in Japanese aniridia patients. J Hum Genet 52, 571–574 (2007). https://doi.org/10.1007/s10038-007-0153-2
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DOI: https://doi.org/10.1007/s10038-007-0153-2