View Only- P3EGS – Expanding Exomes to the Underserved-P3EGS

Video Transcription

Video Summary

The video transcript is from a case conference called PEGS, Expanding Exomes to the Underserved, hosted by the University of California, San Francisco. The conference discusses the clinical utility of exome and genome sequencing tests, as well as the barriers to obtaining genetic testing in underserved populations. Three cases are presented during the conference. The first case involves a seven-year-old female with intellectual disability and developmental delays, and a suspected fatty acid oxidation disorder. Whole exome sequencing identified biallelic pathogenic mutations in the TANGO2 gene. The second case involves a 17-year-old female with Rett syndrome-like symptoms, including intellectual disability and motor delays. Exome sequencing identified a rare MEK-2 truncating variant. The third case involves a 10-year-old male with epilepsy, global developmental delay, failure to thrive, and microcephaly. Exome sequencing identified a maternally inherited hemizygous truncating variant in the RNF113A gene, associated with non-photosensitive trichocytodystrophy. The presenters highlight the challenges and clinical utility of exome sequencing in diagnosing rare genetic disorders. The conference concludes with a question and answer session.

Asset Subtitle

Hosted by UCSF Benioff Children's Hospital

Keywords

exome sequencing

genetic testing

intellectual disability

developmental delays

Rett syndrome

epilepsy

microcephaly

trichocytodystrophy

rare genetic disorders