A study on mutations in Von-Hippel-Lindau (VHL) syndrome families revealed that:
- 1/3 have either a partial or complete deletion of the VHL gene
- Very high frequency of Alu repeats in the vicinity of the VHL gene
- Almost all VHL gene deletions involve Alu repeats within the gene, leading to genomic instability
- One particular VHL deletion hotspot of exon 3 was observed in 45% of breakpoints
What does this mean?
• In families that meet clinical criteria for VHL without a detectable VHL pathogenic variant whole genome sequencing may be considered for further analysis
To learn more, read the full article at:
https://pubmed.ncbi.nlm.nih.gov/33675279/
Reference: Vocke CD, et al. Hum Mutat. 2021; 42(5):520-529. PMID: 33675279.