Medical records of 26 patients with germline mutations of the VHL gene who had been diagnosed with VHL disease in Severance Hospital (Seoul, Republic of Korea) and Samsung Medical Center (Seoul, Republic of Korea) between 2003 and 2012 were respectively reviewed. Peripheral blood leukocytes were isolated and directly sequenced. Patient 29, 47Y female, and her daughter presented with multiple and/or bilateral pheochromocytoma. The proband also presented with CNS and retinal hemangioblastomas. Both family members had the c.361G>A (p.D121N) germline VHL variant. The probands phenotypes were revised from a previous report in PMID 16142346 and was previously reported by Yang et al., in 2005 (reference 20 in the current paper). The proband was diagnosed with VHL Type 2A and her daughter with VHL Type 2C.

PatientID: 3

KindredID: K-V7/V6

Case: M, Age Unknown, Korean

DiseaseAssertion: VHL

FamilyInfo: The proband (ID 1) was affected with retinal hemangioblastoma, bilateral pheochromocytoma, and pancreatic tumor. The daughter (ID 2) was affected with retinal hemangioblastoma and bilateral pheochromocytoma. The son (ID 3) was affected with retinal hemangioblastoma. All three were positive for the D121N (c.361G>A) germline variant of the VHL gene.

CasePresentingHPOs: HP:0009711 (Retinal capillary hemangioma)

CaseHPOFreeText: Retinal hemangioblastomas, pancreatic tumor and bilateral pheochromocytoma. Diagnosed with VHL type 2.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.D121N (c.361G>A)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA351753750, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA351753750

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: D121N (c.361G>A)

MultipleGeneVariants: N/A