Case 7In 1980, a 15-yr-old girl with a familial history of VHL presented with loss of visual acuity leading to the diagnosis of bilateral retinal hemangioblastomas followed by laser and cryotherapy. However, outcome was unilateral blindness. Furthermore, the patient was then operated three times for CNS hemangioblastomas between ages 18 and 24. At age 26, she presented with a palpable lateral neck mass. CT of the head and neck revealed a 3-cm carotid body tumor. The tumor was removed, and histology showed a paraganglioma. Molecular genetics identified the VHL germline mutation p.Thr105Pro.
PatientID: 7
KindredID: 7
Case: F, 26Y0M, Ethnicity Unknown
DiseaseAssertion: assumed VHL
FamilyInfo: Positive family history of VHL.
CohortInfo: An international consortium registered patients with head and neck paragangliomas with VHL or RET gene mutations.
CasePresentingHPOs: HP:0000618; HP:0009711; HP:0010797; HP:0002668 (blindness, retinal capillary hemangioma, hemangioblastoma, paraganglioma)
CaseHPOFreeText: At 15Y she presented with loss of visual acuity, leading to the diagnosis of bilateral retinal hemangioblastomas (treated with laser and cryotherapy), with the outcome of unilateral blindness. The patient was then operated 3 times for CNS hemangioblastomas between ages 18 and 24. At age 26, she presented with a palpable lateral neck mass. CT of the head and neck revealed a 3-cm carotid body tumor (paraganglioma).
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: RET
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.T105P (c.313A>C)
LegacyVariant: p.T105P
CaseProblemVariantFreeText: As the publication only provides the p., the mutation was deduced to p.T105P (c.313A>C)
ClinVarID: 496055 https://www.ncbi.nlm.nih.gov/clinvar/variation/496055/
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant; transversion
CivicName: T105P (c.313A>C)
MultipleGeneVariants: N/A