Ninety-eight individuals were tested for VHL mutations--23 symptomatic and 75 asymptomatic individuals belonging to 16 families. Seven of the families had definite clinical criteria of VHL disease, five had sporadic hemangioblastoma, and four had CNS hemangioblastoma combined with minor visceral signs. Molecular genetic testing identified five germline mutations in six of the definite VHL families (sensitivity 85%), but none in the possible VHL and sporadic hemangioblastoma cases; four of these mutations had been previously described and one is a novel mutation present in two unrelated families. After patients carrying the mutation were identified, they underwent clinical screening and asymptomatic VHL-related lesions were identified in 43%.
PatientID: 24
KindredID: D
Case: Sex Unknown, 29Y0M, Mexican (Latino/Admixed American)
DiseaseAssertion: assumed VHL
FamilyInfo: The family history of this patient is negative for the disease; one possibility is that she carries a de novo mutation, although the possibility of non-paternity could not be ruled out. Other affected individuals in Family D died at an early age
CasePresentingHPOs: HP:0010797; HP:0009711; HP:0000107; HP:0001737; HP:0005584; HP:0002666 (hemangioblastoma, retinal capillary hemangioma, renal cyst, pancreatic cysts, renal cell carcinoma, pheochromocytoma)
CaseHPOFreeText: Symptomatic before 29Y, clinically manifested as 2 cerebellar hemangioblastomas, bilateral retinal angiomas, multiple pancreatic & kidney cysts, unilateral RCC, pheochromocytoma, and broad ligament cystadenoma
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: 20064270
SupplementalData: N/A
Variant: p.D121G (c.362A>G)
CaseProblemVariantFreeText: N/A
LegacyVariant: N/A
ClinVarID: 223200 https://www.ncbi.nlm.nih.gov/clinvar/variation/223200/
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant;transition
CivicName: D121G (c.362A>G)
MultipleGeneVariants: N/A