After genetic counseling and with informed consent, mutation analysis was performed in the parents, a sibling, and, subsequently, in the paternal grandparents. The heterozygous mutation c.491A > G (Q164R) arose de novo in the patient's 31-year-old father who had so far been free of medical complaints and was normotensive (Fig. 2). Upon screening, a retinal angioma, an adenoma of the right adrenal gland of 1.5 cm in diameter, a right-sided renal cyst, an epididymal cyst, a contrast-enhancing lesion in the pancreas and bilateral pheochromocytomas with pronounced tracer-uptake on I-123-MIBG-scan and F-18-DOPA-PET-scan were detected. Noradrenaline, normetanephrine, and plasma-normetanephrine were elevated. Chromogranin A values were increased in plasma. The father underwent laparoscopic bilateral adrenalectomy and received focal ophthalmologic treatment for the retinal angioma
PatientID: N/A (father)
KindredID: 1
Case: M, 33Y0M, Ethnicity Unknown
DiseaseAssertion: assumed VHL
FamilyInfo: Analyses of his daughter revealed this mutation after adrenal pheochromocytoma were discovered before she was 3Y. Genetic testing was done on this patient, his wife, his other child, and his parents. The mutation was found to have occurred de novo as both of his parents were negative.
CasePresentingHPOs: HP:0009711; HP:0000107; HP:0030424; HP:0006748 (retinal capillary hemangioma, hemangioblastoma, endolymphatic sac tumor, adrenal pheochromocytoma)
CaseHPOFreeText: After testing of his daughter, this man, free of medical complaints, was screened to find a retinal angioma, an adenoma of the right adrenal gland of 1.5 cm in diameter, a right-sided renal cyst, an epididymal cyst, a contrast-enhancing lesion in the pancreas and bilateral pheochromocytomas with pronounced tracer-uptake on I-123-MIBG-scan and F-18-DOPA-PET-scan were detected. Noradrenaline, normetanephrine, and plasma-normetanephrine were elevated. Chromogranin A values were increased in plasma. The father underwent laparoscopic bilateral adrenalectomy and received focal ophthalmologic treatment for the retinal angioma.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.Q164R (c.491A>G)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: 2238 https://www.ncbi.nlm.nih.gov/clinvar/variation/2238/
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant;transition
CivicName: Q164R (c.491A>G)
MultipleGeneVariants: N/A