GroupID: 161

DiseaseAssertion: VHL

GroupSize: N/A

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: N/A

GroupAgeRange: N/A

GroupInfo: VHL family found to have a germline rearrangement of the VHL gene. The number of family members included in this study is not specified.

GroupPresentingHPOs: N/A

GroupHPOFreeText: Patients within this family were found to have a clinical diagnosis of VHL disease, however, the presenting phenotypes were not specified.

GroupNotHPOs: HP:0002666 (Pheochromocytoma)

GroupNotHPOFreeText: N/A

GroupPreviousTesting: N/A

PreviouslyPublished: Stated as being previously reported in PMID 7728151 and/or 8956040. Both these reports include a family presenting with this variant and it is unclear if one or both coincide with the current family.

SupplementalData: N/A

Variant: p.E186K (c.556G>A)

LegacyVariant: c.769G>A

CaseProblemVariantFreeText: N/A

ClinVarID: 161403, https://www.ncbi.nlm.nih.gov/clinvar/variation/161403/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: E186K (c.556G>A)

MultipleGeneVariants: N/A

Two patients and their families were presented in this paper with PKD1 and PKD2 mutations. Case 2, with 3 familial generations ADPKD, was diagnosed soon after birth with multiple small cortical cysts in both kidneys. The 4 year old male inherited a PKD1 and PKD2 mutation from each parent: c.7288C>T p.(Arg2430), and c.124_125ins52bp p.(Ala42fs66). A heterozygous variant in the VHL gene (NM_000551.3 (c.556G>A p.[Glu186Lys]) was additionally identified in this individual through a gene panel based Next Generation Sequencing approach. Patient is an offspring of a family with 3 generations of autosomal dominant polycystic kidney disease (ADPKD). Father had mild liver cysts and found to be a carrier of the truncating mutation in PKD1 at 18Y0M. Mother had mildly enlarged kidneys with small cysts bilaterally, as well as liver cysts and found to be a carrier of a truncating mutation in PKD2 at 19Y0M. No information provided on whether the parents possess the VHL mutation.