The boy's father was the index case and had the same mutation with an exclusive expression of the disease in the adrenal gland. The father had been operated on for a bilateral pheochromocytoma at 12 years of age. Genetic screening of the patient at 7 years of age revealed the same mutation as his father without any expression of the disease at diagnosis.
PatientID: N/A (index case - father)
KindredID: 1
Case: M, 15Y0M, Ethnicity Unknown
DiseaseAssertion: Adrenal Pheochromocytoma
FamilyInfo: Patient’s son was molecularly diagnosed with a VHL mutation at 7Y0M, which was followed by annual follow ups. At 13-years-old the patient was rushed to the hospital due to polyuria, headache, flushes, and abnormal perspiration. Abdominal ultrasonography and MRI revealed an adrenal gland tumor. Patient was treated with antihypertensive bitherapy for his high blood pressure. Adrenalectomy was performed, followed by slowly weaning the patient of the medications. At the last follow up 2 years after surgery, there has been no recurrence.
CasePresentingHPOs: HP:0006748 (Adrenal Pheochromocytoma)
CaseHPOFreeText: Patient had adrenal pheochromocytoma, which was operated on at 12 years of age.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.V170G (c.509T>G)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: N/A
CAID: CA351756196, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.509T%3EG
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant; transversion
CivicName: V170G (c.509T>G)
MultipleGeneVariants: N/A