Article

High-throughput splicing assays identify known and novel<i>WT1</i>exon 9 variants in nephrotic syndrome

2023-03-20

Abstract excerpt

Frasier Syndrome (FS) is a rare Mendelian form of nephrotic syndrome caused by variants which disrupt the proper splicing of WT1 . This key transcription factor gene is alternatively spliced at exon 9 to produce two isoforms (“KTS+” and “KTS-”), which are normally expressed in the kidney at a ∼2:1 (KTS+:KTS-) ratio. FS results from variants that reduce this ratio by disrupting the splice donor of the KTS+ isoform....

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Literature Corpus work: d797a5c8-9a12-50dc-9fa0-b04f4ae6d2ef
DOI: 10.1101/2023.03.14.23287117

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