Multiplex ligation-dependent probe amplification (MLPA) analysis of VHL exons 1-3. Signal intensity reveals only a single copy of VHL exon 2 and 3 in a patient with VHL due to deletion of VHL exon 2 and 3 (A) and only a single copy of each VHL exon in a patient with VHL due to deletion of whole VHL gene deletion (B) when compared to a healthy control (C).
PatientID: 10
KindredID: 10
Case: F, 44Y0M, Korean
DiseaseAssertion: VHL
FamilyInfo: Patient had a positive family history: Her father was died of RCC (no mutation availible), and her younger sister presented with medullary HB at the age of 37 and multiple RCC in both kidneys at the age of 38, harbored the same exon deletion
CasePresentingHPOs: HP:0009713; HP:0001737; HP:0000107 (spinal hemangioblastoma, pancreatic cysts, renal cyst)
CaseHPOFreeText: patient had CNS hemangioblastoma (of multiple spinal hemangioblastomas), and multiple cysts in pancreas and both kidneys were identified by abdomen-pelvis CT.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: Previously reported, HGMD (Human Gene Mutation Database) [Refer to table 2].
SupplementalData: N/A
Variant: Exon 1-3 deletion (c.1-?_642+?del)
CaseProblemVariantFreeText: N/A
LegacyVariant: N/A
ClinVar: N/A
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: exon_loss_variant
CivicName: Exon 1-3 Deletion
MultipleGeneVariants: N/A