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Splice-switching antisense oligonucleotides correct cryptic exon inclusion and restore SDCCAG8 protein in Bardet-Biedl Syndrome

2025-10-15

Abstract excerpt

<h4>ABSTRACT</h4> Bardet-Biedl Syndrome (BBS) is a ciliopathy often associated with progressive blindness and obesity. A patient presenting with BBS was discovered to have two mutations within 55bp of each other in intron 7 of SDCCAG8 ( BBS16 ). One of the biallelic mutations, c.740+356C>T, causes inclusion of cryptic exon(s) containing premature termination codons, while c.740+301G>A has not been characterized...

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Literature Corpus work
7471cf4c-e25f-5469-b44a-c8570b60ac0f
DOI
10.1101/2025.10.15.682674
Open publication

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Splice-switching antisense oligonucleotides correct cryptic exon inclusion and restore SDCCAG8 protein in Bardet-Biedl SyndromeDOI 10.1101/2025.10.15.682674
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