A cohort of 141 patients with hemangioblastomas of the central nervous system was analyzed. 81 patients had germline mutations in the VHL gene, analyzed through peripheral blood by Southern blotting and SSCP analysis. This inframe mutation (c.230_231insTCT) was recorded in the paper as c.443insTCT due to a difference in transcript sequence. It was found in 1 patient with a hemangioblastoma of the central nervous system. Any family information is unknown. No other phenotypes described.

36 VHL-related pheochromocytomas (from 21 patients) and 10 VHL-related CNS hemangioblastomas (from 6 patients) were studied using comparative genomic hybridization (CGH) to detect genetic imbalances. Patient III in VHL-Associated hemangioblastoma was found with germline insertion mutation (c.230insTCT) in the VHL gene (stated as c.443TCT in the paper which used the Latif sequence as reference) in the VHL gene. All patients have familial VHL.

GroupID: III (from Hemangioma VHL Associated Group)

Case: Sex Unknown, Age Unknown, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: N/A

CohortInfo: Studied 36 VHL-related pheochromocytoma by comparative genomic hybridization. In addition, we compared their genetic profiles with those of (1) multiple endocrine neoplasia type 2 (MEN 2)-related pheochromocytomas; (2) previously reported sporadic pheochromocytomas; and (3) VHL-related CNS hemangioblastomas.

CasePresentingHPOs: HP:0010797 (hemangioblastoma)

CaseHPOFreeText: The patient had VHL associated hemangioblastoma (table 1).

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: MEN1 and SDHD

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.C77_N78insL (c.230_231insTCT)

CaseProblemVariantFreeText: N/A

LegacyVariant: p.C77_N78insL (c.443_444insTCT)

ClinVarID: N/A

CAID: CA2499214029, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.230_231insTCT

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant; transversion

CivicName: C77_N78insL (c.230_231insTCT)

MultipleGeneVariants: N/A