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    Identification of a VHL Gene Mutation in a Chinese Family With Von Hippel‑Lindau Syndrome
    3
    1. ClingenBaseline 13 Nov 2026
      III:8)

      PatientID: III:8

      KindredID: 1

      Case: M, Age Unknown, Chinese

      DiseaseAssertion: Asymptomatic

      FamilyInfo: One of the proband's maternal cousins was a healthy individual that was demonstrated to carry the same mutation, as revealed by Sanger sequencing: III:8, female. A second cousin, a 28 year old male (the proband III:2), was also found to have the same mutation and had a hemangioblastoma. A further five affected members of the family had previously died from VHL syndrome, including III:8's father (II:5), paternal grandfather (I:1), an uncle (II:3) and aunt (II:2) and a sister (III:10). These deceased family members had not previously been tested for mutations in the VHL gene. Pedigree: see Figure 1.

      CasePresentingHPOs: None

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: All members of the family were examined by two experienced surgeons. Diagnoses of VHL syndrome were determined via investigation of medical histories and performance of physical examinations, including a complete neurological examination and brain magnetic resonance imaging (MRI)

      CasePreviousTesting: N/A

      PreviouslyPublished: NA

      SupplementalData: NA

      Variant: p.H115Q (c.345C>A)

      ClinVar: 496057 https://www.ncbi.nlm.nih.gov/clinvar/variation/496057/

      CAID:N/A

      gnomAD: N/A

      VariantEvidence: RNA extracted from peripheral blood samples obtained from patients in the pedigree and the healthy controls. No significant difference in the expression of pVHL was demonstrated between the mutated and wild type cDNA, as demonstrated by RT-sqPCR analysis.

      MutationType: missense_variant;transversion

      CivicName: H115Q (c.345C>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:asymptomatic Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:345 ProteinPosition:115 AminoAcidChange:HIStoGLN ClinVarID:496057 MutationType:missense_variant;transversion CivicName:H115Q(c.345C>A) FamilyPedigree ClinVarID:Yes Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 13 Nov 2026
      The proband was a 28-year-old male, who presented with an episodic headache for 10 years. Both the finger-nose test and the Romberg's sign were recorded as positive in the physical examination. A cyst and a nodule were revealed via brain MRI (Fig. 2). The cyst was demonstrated to be a hemangioblastoma tumor following surgical excision followed by histopathological analysis of the biopsy tissues. H&E staining revealed that the lesion contained a large number of thin-walled capillaries (Fig. 3). The sole neoplastic element, known as the ‘stromal cell’, inhabited the interstices between ramifying vascular arcades. Stromal cells stained for S-100 and NSE exhibited dense-core intracytoplasmic granules, however did not demonstrate expression of GFAP or EMA (Fig. 3), which has previously been detected immunohistochemically in most nonneoplastic epithelia (18). Stromal cells did not exhibit positive staining for endothelial markers such as CD34, whereas the thin-walled capillaries were positive; stromal cells occasionally exhibited the expression of vascular marker F8 (Fig. 3). The expression of Ki-67, which is a proliferation marker (19), was <1% (Range of normal value 1–2%; Fig. 3). Therefore, the proband was diagnosed with VHL syndrome at the Hunan Cancer Hospital (Changsha, China).

      PatientID: proband (III:2)

      KindredID: 1

      Case: M, 28Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Two of the proband's maternal cousins were healthy individuals that were demonstrated to carry the same mutation, as revealed by Sanger sequencing: III:4, male, and III:8, female as seen in the pedigree from Figure 1. A further five affected members of the family had previously died from this syndrome, including the proband's mother (II:2), maternal grandfather (I:1), two uncles (II:3 and II:5), and a cousin (III:10). These deceased family members had not previously been tested for mutations in the VHL gene. Pedigree: see Figure 1.

      CasePresentingHPOs: HP:0010797 (Hemangioblastoma)

      CaseHPOFreeText: A cyst and a nodule were revealed via brain MRI. The cyst was demonstrated to be a hemangioblastoma tumor following surgical excision

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: NA

      SupplementalData: NA

      Variant: p.H115Q (c.345C>A)

      ClinVar: 496057 https://www.ncbi.nlm.nih.gov/clinvar/variation/496057/

      CAID:N/A

      gnomAD: N/A

      VariantEvidence: RNA extracted from peripheral blood samples obtained from patients in the pedigree and the healthy controls. No significant difference in the expression of pVHL was demonstrated between the mutated and wild type cDNA, as demonstrated by RT-sqPCR analysis.

      MutationType: missense_variant;transversion

      CivicName: H115Q (c.345C>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNApositon:c.345C>A AminoAcidChange:HIStoGLN ProteinPosition:115 ClinVarID:496057 InheritancePattern:AutosomalDominant Ethnicity:Chinese AgeOfPresentation:hemangioblastoma:28 CivicName:H115Q(c.345C>A) FamilyPedigree MutationType:missense_variant;transversion ClinVarID:Yes Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    3. ClingenBaseline 12 Nov 2026
      III:4

      PatientID: III:4

      KindredID: 1

      Case: M, Age Unknown, Chinese

      DiseaseAssertion: Asymptomatic

      FamilyInfo: One of the proband's maternal cousins was a healthy individual that was demonstrated to carry the same mutation, as revealed by Sanger sequencing: III:8, female. A second cousin, a 28 year old male (the proband III:2), was also found to have the same mutation and had a hemangioblastoma. A further five affected members of the family had previously died from VHL syndrome, including pateint III:4's father (II:3), paternal grandfather (I:1), an uncle (II:5) and aunt (II:2) and a cousin (III:10). These deceased family members had not previously been tested for mutations in the VHL gene. Pedigree: see Figure 1.

      CasePresentingHPOs: None

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: All members of the family were examined by two experienced surgeons. Diagnoses of VHL syndrome were determined via investigation of medical histories and performance of physical examinations, including a complete neurological examination and brain magnetic resonance imaging (MRI)

      CasePreviousTesting: N/A

      PreviouslyPublished: NA

      SupplementalData: NA

      Variant: p.H115Q (c.345C>A)

      ClinVar: 496057 https://www.ncbi.nlm.nih.gov/clinvar/variation/496057/

      CAID:N/A

      gnomAD: N/A

      VariantEvidence: RNA extracted from peripheral blood samples obtained from patients in the pedigree and the healthy controls. No significant difference in the expression of pVHL was demonstrated between the mutated and wild type cDNA, as demonstrated by RT-sqPCR analysis.

      MutationType: missense_variant;transversion

      CivicName: H115Q (c.345C>A)

      MultipleGeneVariants: N/A

      Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:115 AminoAcidChange:HIStoGLN ClinVarID:496057 InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:asymptomatic cDNAposition:345 MutationType:missense_variant;transversion CivicName:H115Q(c.345C>A) FamilyPedigree ClinVarID:Yes Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    spandidos-publications.com/10.3892/mmr.2018.8974