View Only- Surprises from the NGS Lab: Reconciling Genotype with Phenotype in the Era of Genomic Medicine-Surprises from the NGS Lab: Reconciling Genotype with Phenotype in the Era of Genomic Medicine

Surprises from the NGS Lab: Reconciling Genotype with Phenotype in the Era of Genomic Medicine

Video Transcription

Video Summary

The video is a recording of the ACMG Genomics Case Conferences. The speakers discuss three different cases and their genetic diagnoses. In Case 1, the patient had intractable epilepsy and intellectual disability. After sequencing her genome, a pathogenic variant in the TSC1 gene was identified, indicating a diagnosis of tuberous sclerosis complex (TSC). However, the patient's lack of skin findings and normal MRI results raised some uncertainty about the diagnosis. Further testing and analysis revealed additional variants and family history that confirmed the diagnosis of TSC and highlighted the variability of the disorder. Case 2 involved a patient with neonatal progeria syndrome or Wiedemann-Rautenstrauss Syndrome. The patient had a distinctive physical appearance, including a strawberry-shaped skull and prominent scalp veins. Genetic testing identified a mutation in the Pol-R3a gene, confirming the diagnosis. In Case 3, a patient with a long history of pustular psoriasis developed septic shock and was diagnosed with mucormycosis. Further genetic testing revealed a pathogenic variant in the HLCS gene, associated with holocarboxylase synthetase deficiency. The patient's older sibling, who had died in infancy, was also found to have the same genetic variant. The presentation emphasizes the importance of collaboration between the lab and clinical teams in diagnosing and understanding rare genetic disorders.

Asset Subtitle

Hosted by Children's Mercy Kansas City

Keywords

ACMG Genomics Case Conferences

genetic diagnoses

TSC1 gene

tuberous sclerosis complex

neonatal progeria syndrome

Pol-R3a gene

pustular psoriasis

HLCS gene