View Only- Diagnostic Utility of RNA-Seq in Neurodevelopmental Disorders- OnDemand-Diagnostic Utility of RNA-Seq in Neurodevelopmental Disorders

Video Transcription

Video Summary

The video content is a presentation from the ACMG Genomics Case Conference. The presenter, Jill Rosenfeld-Milkery, introduces herself as being from Baylor College of Medicine and speaking on behalf of the Undiagnosed Diseases Network (UDN) clinical site at Baylor. The presentation discusses the use of RNA sequencing (RNA-seq) in diagnosing genetic disorders, specifically within neurodevelopmental disorders. The presenter highlights three case studies where RNA-seq was used to identify causative variants that were missed by exome sequencing or chromosomal microarray analysis. In the first case, RNA-seq revealed abnormal splicing in the PQBP1 gene associated with Rett-Penning syndrome. In the second case, decreased expression in the KNSL1 gene was identified as the causative variant for Coulan-DeVries syndrome. In the third case, a synonymous variant in the PRUNE1 gene led to exon skipping and was associated with a neurodevelopmental disorder. The presentation emphasizes the importance of using RNA-seq as a complementary tool to genome sequencing for cases with negative exome sequencing results. The presentation concludes with acknowledgements and references for further reading. No specific credits were mentioned in the transcript.

Keywords

RNA-seq

neurodevelopmental disorders

abnormal splicing

PQBP1 gene

Rett-Penning syndrome

decreased expression

KNSL1 gene

Coulan-DeVries syndrome

synonymous variant