family B, with pheochromocytoma only phenotype, we detected a previously not described c.463G>A/p.Val84Met replacement. Within this family, a prenatal diagnosis was also performed.
PatientID: BII2
KindredID: B
Case: M, 40Y0M, Serbian
DiseaseAssertion: VHL
FamilyInfo: Families were selected based on their clinical data and family history. Patient’s father (BI1) had pheochromocytoma, but was not genetically tested. The patient’s son (BIII3) developed pheochromocytoma at the age of one, but progressed to bilateral pheochromocytoma 3 years later. Genetic testing revealed the same mutation in the patient and his son. In fact, a sample of amniotic fluid was taken from the patient’s wife (BII2) during the 16th week of pregnancy for prenatal testing, which was later confirmed to be the same point mutation as BII2. See pedigree in figure 1.
CasePresentingHPOs: HP:0002666 (pheochromocytoma)
CaseHPOFreeText: The first symptoms of pheochromocytoma appeared in the patient at age 40Y0M.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.V84M (c.250G>A)
LegacyVariant: p.V84M (c.463G>A)
CaseProblemVariantFreeText: N/A
ClinVarID: 428813, https://www.ncbi.nlm.nih.gov/clinvar/variation/428813/
CAID: N/A
gnomAD: 0.000004376, https://gnomad.broadinstitute.org/variant/3-10183781-G-A
VariantEvidence: N/A
MutationType: missense variant; transition
CivicName: V84M (c.250G>A)
MultipleGeneVariants: N/A