Medical records of 31 Asian Indian genetically proven VHL patients with pheochromocytoma/paraganglioma were studied. A 42 year old male (Patient 20) presented with unilateral pheochromocytoma (42Y) and central nervous system hemangioblastoma (42Y). Genetic testing (PCR and Sanger sequencing) confirmed a non-familial missense mutation at c.487C>T of the VHL gene. He has a negative family history.
3 Matching Annotations
- Last 7 days
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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nyaspubs-onlinelibrary-wiley-com.uhn.idm.oclc.org nyaspubs-onlinelibrary-wiley-com.uhn.idm.oclc.org
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Leu163Phe (700C-T)
PatientID: (proband)
KindredID: 3
Case: M, Age unknown, Chinese
DiseaseAssertion: pheochromocytoma
FamilyInfo: There is a history of non-syndromic familial pheochromocytoma in this patient’s family history, however their relatives were not available for the study. It is not perfectly clear which pedigree belongs to this family.
CasePresentingHPOs: HP:0002666 (pheochromocytoma)
CaseHPOFreeText: non-syndromic pheochromocytoma
CaseNotHPOs: N/A
CaseNotHPOFreeText: No clinical manifestations of hereditary syndromes, including MEN2A, MEN2B, VHL, and NF1 were found
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.L163F (c.487C>T)
LegacyVariant: p.L163F (c.700C>T)
CaseProblemVariantFreeText: N/A
ClinVarID: 480772 https://www.ncbi.nlm.nih.gov/clinvar/variation/480772/
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant;transition
CivicName: L163F (c.487C>T)
MultipleGeneVariants: N/A
Tags
- DiseaseEntity:pheochromocytoma
- Familial
- ProteinPosition:163
- FamilyPedigree
- MutationType:missense_variant;transition
- Ethnicity:Chinese
- AminoAcidChange:LEUtoPHE
- InheritancePattern:AutosomalDominant
- AssumedRefSeq:AF010238.1
- inferred_gene_hgnc:8787
- cDNAposition:487
- CivicName:L163F(c.487C>T)
- ClinVarID:Yes
- inferred_gene_source:ClinVar
- Mutation:Germline
- VHL Hypothesis Annotation
- ClinVarID:480772
Annotators
URL
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eje.bioscientifica.com eje.bioscientifica.com
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30M/42ASUnilateral PCCVHL3c.487C>Tp.(Leu163Phe)Substitution (missense)Disease causing
150 index patients with pheochromocytoma/paraganglioma were evaluated. Phenotypic data were collected and germline mutations in five susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) were tested. Out of 30 patients with familial presentation, 13 were clinically diagnosed as VHL syndrome. A 42 year old Asian Indian male presented with unilateral pheochromocytoma. Using PCR and Sanger sequencing through peripheral blood, genetic testing confirmed a non-familial missense mutation at c.487C>T of the VHL gene. Family history is unknown.
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