Journal
WORLD NEUROSURGERY
Volume 150, Issue -, Pages E696-E704Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.wneu.2021.03.089
Keywords
MAP2K3; Mutation; Von Hippel-Lindau; Whole-exome sequencing
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Funding
- Program for Changjiang Scholars and Innovative Research Team in University [IRT13058]
- National Natural Science Foundation of China [81560409]
- Program for Provincial Science and Technology [LH-2016-7236]
- Program for National Natural Science Foundation of China [81560409]
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The study uncovered most of the known mutations in the VHL gene, as well as a previously unreported large fragment deletion. Additionally, 3 novel mutation sites in the MAP2K3 gene were identified that may be involved in the occurrence and development of VHL disease.
OBJECTIVE: Von HippelLLindau (VHL) syndrome is a rare disease that occurs in an autosomal-dominant genetic pattern. Due to the high genetic variability of VHL diseases, current studies have limited clinical value. Moreover, casual genetic variations in patients with VHL syndrome are still unclear. METHODS: Here, we performed whole-exome sequencing of 25 individuals to identify reliable diseaserelated variations. Systemic computational analysis was performed for variant detection, and Sanger sequencing was used to validate detected mutations. RESULTS: Most of the known mutations in the VHL gene were observed in the studied population. In addition, a large fragment deletion in VHL exon 2 in the immediate family members of the last family was detected. This had not been reported earlier. Moreover, we identified 3 novel mutation sites in the MAP2K3 gene that may be involved in the occurrence and development of the VHL disease. CONCLUSIONS: These results demonstrated that the heterogeneous nature of VHL syndrome and novel mutational signatures may help to improve the diagnostic ability of VHL syndrome.
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