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Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations.

Human mutation - 1 Feb 2016

Liquori Alessandro, Vaché Christel, Baux David, Blanchet Catherine, Hamel Christian, Malcolm Sue, Koenig Michel, Claustres Mireille, Roux Anne-Françoise

Abstract excerpt

Deep intronic mutations leading to pseudoexon (PE) insertions are underestimated and most of these splicing alterations have been identified by transcript analysis, for instance, the first deep intronic mutation in USH2A, the gene most frequently involved in Usher syndrome type II (USH2). Unfortunately, analyzing USH2A transcripts is challenging and for 1.8%-19% of USH2 individuals carrying a single USH2A...

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PMID: 26629787
DOI: 10.1002/humu.22926

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