In family 2 (fig. 1), the affected daughter (IV:6) was diagnosed with VHL disease at age 15 years, when she developed symptoms caused by spinal cord hemangioblastomas (fig. 2C). At age 20 years, she was diagnosed with multiple cystic lesions in the right kidney, a solid lesion of the left kidney, multiple pancreatic cysts, and a small peripheral retinal angioma
PatientID: IV-6
KindredID: 2
Case: F, 23Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: Her 48Y father (Patient III-4) presented with hematuria at age 39Y and was found to have clear-cell renal-cell carcinoma, renal cysts, pancreatic cysts, and multiple hemangioblastomas of the cerebellum and lower brainstem. Her father was found to have mosaic VHL disease and the NM_000551.3:c.227_229del mutation the patient carried in approximately one of seven peripheral blood lymphocytes. The patient’s mother was unaffected. Of the patient’s three sisters and two brothers, one underwent clinical examination and two underwent genetic testing of unclear nature, and were found to be unaffected. The remaining two siblings were not evaluated.
CasePresentingHPOs: HP:0009713; HP:0001737; HP:0000107; HP:0000077; HP:0009711 (Spinal hemangioblastoma, pancreatic cyst, renal cyst, renal lesion, retinal hemangioma)
CaseHPOFreeText: The 23Y female patient was diagnosed with VHL disease at age 15 years, when she developed symptoms caused by spinal cord hemangioblastomas. At age 20 years, she was diagnosed with multiple cystic lesions in the right kidney, a solid lesion of the left kidney, multiple pancreatic cysts, and a small peripheral retinal angioma.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.F76del(c.226_228delTTC)
LegacyVariant: p.F76del(c.439_441delTTC)
ClinVarID: N/A
CAID: CA357012
gnomAD: N/A
VariantEvidence: N/A
MutationType: inframe_deletion
CivicName: F76del(c.226_228delTTC)
MultipleGeneVariants: N/A