2020 Short Course - Essential Fundamentals - Next Generation Sequencing From The Beginning-NGS Case Studies Webinar

Video Transcription

Video Summary

In the first case, a 2-year-old female with a family history of schizophrenia, epilepsy, and mental problems underwent whole exome sequencing. A 43-base pair deletion in the ARID1B gene was identified, causing Coffin-Cyrus syndrome, which is characterized by developmental delays and other anomalies. Management involves monitoring and addressing specific abnormalities associated with the syndrome. <br /><br />In the second case, a 16-month-old male with microcephaly and other features underwent microarray analysis and whole exome sequencing. A chromosomal gain and a likely pathogenic variant in the PPP2R1A gene were identified. This variant is associated with mental retardation defect 36 phenotype. Additionally, a mosaic variant in the CBL gene was identified but found to be confined to the blood. This case emphasizes the occurrence of mosaic variants and the need for additional surveillance for potential associated malignancies. <br /><br />The video also discusses the importance of NGS in genetic testing and diagnostics. In a case involving a patient with acute myeloid leukemia, genetic analysis identified two CEBP-alpha mutations with clinical significance, highlighting the role of genetic evaluation in prognosis determination. In a case involving lung adenocarcinoma, reduced coverage in a region of the MET gene suggested an exon 14 skipping mutation, emphasizing the importance of coverage depth in NGS assays and the need for confirmatory RNA-based testing.<br /><br />The video underscores the careful interpretation of NGS results, assay validation, and the significant role of NGS in identifying clinically relevant genetic alterations in cancer and other diseases.

Keywords

2-year-old female

family history

whole exome sequencing

ARID1B gene

Coffin-Cyrus syndrome

developmental delays

specific abnormalities

16-month-old male

microcephaly

PPP2R1A gene

mental retardation defect 36 phenotype

mosaic variant

NGS