PatientID: None

KindredID: 3

Case: F, 20Y0M, Mexican

DiseaseAssertion: VHL

FamilyInfo: She was adopted and no information about her biological family was available.

CohortInfo: Two families and one apparently non-familial case were studied at the Institute of Ophthalmology ‘Conde de Valenciana’ (Mexico City, Mexico).

CasePresentingHPOs: HP:0009711; HP:0001147; HP:0007917 (Retinal capillary hemangioblastoma, Retinal exudate, Tractional retinal detachment)

CaseHPOFreeText: Progressive VA loss in her left eye. VA was of 6/15 in her right eye and of light perception in the left eye. Funduscopic evaluation of the left eye revealed two temporal inferior retinal HBs accompanied by retinal hard exudate and fibrous vascular tissue that led to tractional retinal detachment.

CaseNotHPOs: N/A

CaseNotHPOFreeText: Abdominal ultrasonography as well as abdominal and CNS computed tomography (CT) and MR imaging did not show tumoural lesions.

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.T100Nfs*32 (c.298dup)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA2573129737, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573129737

gnomAD: N/A

VariantEvidence: Direct sequencing of coding region of the VHL gene exon 1 showed a pattern of peak overlap characteristic of super imposed sequences due to heterozigosity for an insertion/deletion event. Variant reported as: p.N99fs131 (c.298_299insA), cDNA change was found to be equivalent to c.198dup and this was mapped to p.T100Nfs32.

MutationType: duplication; plus_1_frameshift_variant

CivicName: T100Nfs*32 (c.298dupA)

MultipleGeneVariants: N/A