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.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Horinouchi T,Nozu K,Yamamura T,Minamikawa S,Nagano C,Sakakibara N,Nakanishi K,Shima Y,Morisada N,Ishiko S,Aoto Y,Nagase H,Takeda H,Rossanti R,Kaito H,Matsuo M,Iijima Kdoi
10.1038/s41598-019-48990-9subject
Has Abstractpub_date
2019-09-03 00:00:00pages
12696issue
1issn
2045-2322pii
10.1038/s41598-019-48990-9journal_volume
9pub_type
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