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: 26
KindredID: F
Case: Sex Unknown, 30Y0M, Mexican (Latino/Admixed American)
DiseaseAssertion: assumed VHL
FamilyInfo: No family history of VHL or pheochromocytoma
CasePresentingHPOs: HP:0006880; HP:0000107; HP:0005584 (cerebellar hemangioblastoma, renal cyst, renal cell carcinoma)
CaseHPOFreeText: Symptomatic by 30Y, clinically manifested as 1 recurrent cerebellar hemangioblastoma, renal cyst, bilateral renal cell carcinoma
CaseNotHPOs: HP:0002666 (pheochromocytoma)
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: 20064270
SupplementalData: N/A
Variant: p.P86S (c.256C>T)
CaseProblemVariantFreeText: N/A
LegacyVariant: N/A
ClinVarID: 178692 https://www.ncbi.nlm.nih.gov/clinvar/variation/178692/
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant; transition
CivicName: P86S(c.256C>T)
MultipleGeneVariants: N/A