Houston, July 25, 2025 – Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic testing, today announced their participation at the ReNU Hope Scientific Symposium, taking place July 25, 2025, in Uniondale, NY.
What:
Baylor Genetics will present a scientific poster titled “Utility of Whole Genome Sequencing to Detect RNU4-2 Variants Associated with ReNU Syndrome” at the inaugural ReNU Hope Scientific Symposium, spotlighting its latest clinical findings on this neurodevelopmental disorder.
Who:
Robert Rigobello, MS, certified genetic counselor, senior manager of Medical Affairs, Baylor Genetics
When:
Poster Session: 12:20-1:00 p.m. Eastern
Why It Matters:
ReNU syndrome is a newly described neurodevelopmental disorder (2024) caused by pathogenic variants in the RNU4-2 gene. Symptoms associated with this condition include global developmental delay, intellectual disability, hypotonia, seizures, and brain anomalies. Recent literature estimates that it accounts for an estimated 0.4% of all neurodevelopmental disorders.
The poster details Baylor Genetics’ leadership within the diagnostic discovery of a pathogenic RNU4-2 variant in a pediatric patient using whole genome sequencing (WGS). WGS is a uniquely capable test that can detect multiple variant types that traditional genetic tests may miss.
Key Findings:
- WGS identified a pathogenic RNU4-2 variant in a pediatric patient suspected to have ReNU syndrome.
- The patient did not exhibit seizures or abnormal brain imaging, both of which are common (>50%) in previously described ReNU cases.
- This case expands the known clinical spectrum of ReNU syndrome and demonstrates the diagnostic utility of WGS in shortening the diagnostic journey.
- This case supports reanalysis of WGS data which can make diagnoses as new disease gene discoveries are made.
