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Title :Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay
Authors :Horinouchi, Tomoko
Nozu, Kandai
Yamamura, Tomohiko
Minamikawa, Shogo
Nagano, China
Sakakibara, Nana
Nakanishi, Koichi
Shima, Yuko
Morisada, Naoya
Ishiko, Shinya
Aoto, Yuya
Nagase, Hiroaki
Takeda, Hiroki
Rossanti, Rini
Kaito, Hiroshi
Matsuo, Masafumi
Iijima, Kazumoto
Issue Date :3-Sep-2019
Abstract :X-linked Alport syndrome (XLAS) is a congenital renal disease caused by mutations in COL4A5. In XLAS cases suspected of being caused by aberrant splicing, transcript analysis needs to be conducted to determine splicing patterns and assess the pathogenicity. However, such analysis is not always available. We conducted a functional splicing assay using a hybrid minigene for seven COL4A5 intronic mutations: one was identified by us and six were found in the Human Gene Mutation Database. The minigene assay revealed exon skipping in four variants, exon skipping and a 10-bp insertion in one variant, and no change in one variant, which appeared not to be pathogenic. For one variant, our assay did not work. The results of all three cases for which transcript data were available were consistent with our assay results. Our findings may help to increase the accuracy of genetic test results and clarify the mechanisms causing aberrant splicing.
URL :https://doi.org/10.1038/s41598-019-48990-9
Type Local :雑誌掲載論文
ISSN :2045-2322
Publisher :Springer Nature
URI :http://hdl.handle.net/20.500.12000/45627
Citation :Scientific Reports Vol.9 no.12696
Appears in Collections:Peer-reviewed Journal Articles (Faculty of Medicine)

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