Case 2This subject is a female, 31 years old, who is the daughter of the subject in case 1 and was diagnosed as “seronegative arthritis” at the age of 12 along with a sympathetic polyarticular pain of the extremities. At 29-years-old, she was diagnosed with ankylosing spondylitis. The symptomatic treatment was ineffective. Deformation of joints was found in the extremities. She is currently unable to walk independently. In 2018, CT scans revealed multiple cysts in her kidney and pancreas but no abnormalities in her brain. VHL gene examination showed 1 missing variation (Fig. 6). The mutation site was the same as that in her father. She was diagnosed with VHL syndrome based on the results of genetic testing and her family history. Fig. 6VHL gene testing results of case 2. The GACTGGA sequence was deleted in the VHL gene in case 2 by using extracted DNA from patient blood. This deletion resulted in the alteration of Arg-177 in the VHL protein
PatientID: 2
KindredID: 2
Case: F, 31Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: The patient’s father was case 1, who possessed the same mutation and had VHL syndrome. Patient's father died at age 54Y0M.
CasePresentingHPOs: HP:0000107; HP:0001737 (Renal cyst; Pancreatic cysts)
CaseHPOFreeText: The patient was diagnosed as “seronegative arthritis” due to sympathetic polyarticular pain of the extremities at age 12Y0M. At 29Y0M, she was diagnosed with ankylosing spondylitis. In 2018, CT scan revealed renal and pancreatic cysts. Diagnosed with VHL disease due to symptoms and family history.
CaseNotHPOs: HP:0006880 (Cerebellar hemangioblastoma)
CaseNotHPOFreeText: Patient did not have any brain abnormalities at the time of her CT scan.
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.R177Tfs*23(c.530_536del)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: 694389, https://www.ncbi.nlm.nih.gov/clinvar/variation/694389/
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: minus_1_frameshift_variant
CivicName: R177Tfs*23(c.530_536del)
MultipleGeneVariants: N/A