3 Matching Annotations
  1. Last 7 days
  2. onlinelibrary-wiley-com.uhn.idm.oclc.org onlinelibrary-wiley-com.uhn.idm.oclc.org
    Neurofibromatosis type 1: should we screen for other genetic syndromes? A case report of co-existence with multiple endocrine neoplasia 2A
    1
    1. ClingenBaseline 26 Oct 2026
      The genetic testing revealed the presence of NF1 germline mutation (c.3516_3517delTC, p.D1172DfsX21). However, while the genetic analysis of the RET proto-oncogene did not reveal any mutation, the screening of the VHL gene revealed the presence of a so far undescribed missense variant (c.788 C>G, p.Pro192Arg). Both variants were present in the mother and absent in the healthy son.

      PatientID: 1 (case)

      KindredID: 1

      Case: F, 70Y0M, Ethnicity Unknown

      DiseaseAssertion: NF1

      FamilyInfo: Her son bearing the clinical characteristics of NF 1 died at the age of 17Y from an undefined malignancy. The patient has another son, 40 years old, who is clinically well.

      CasePresentingHPOs: HP:0002666; HP:0000843; HP:0002865 (pheochromocytoma; hyperparathyroidism; medullary thyroid cancer)

      CaseHPOFreeText: diagnosed with an isolated pheochromocytoma of the right adrenal gland underwent adrenalectomy) at 20Y. Further diagnosed with hyperparathyroidism and medullary thyroid cancer, having the full spectrum of the clinical picture of the MEN2A syndrome. Patient was diagnosed with NF1 at 20Y with multiple café–au-lait spots on her back and lower limbs were identified. She also had multiple dermal neurofibromas on the abdomen and lower limbs. Her medical history included diabetes mellitus type II, as well as hypertension.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: MRI of the brain was performed at 20Y, which did not reveal any brain neurofibromas.

      CasePreviousTesting: NF1, RET

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P192R (c.575C>G)

      LegacyVariant: p.P192R (c.788C>G)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 825946 https://www.ncbi.nlm.nih.gov/clinvar/variation/825946/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: According to in silico analysis and clinical history of the patient, VHL was more likely a rare polymorphic variant of the population of patient’s origin, rather than a disease causing mutation.

      MutationType: missense_variant;transversion

      CivicName: P192R (c.575C>G)

      MultipleGeneVariants: Germline, NF1, c.3516_3517delTC, p.D1172Dfs*21

      InheritancePattern:AutosomalDominant DiseaseEntity:NF1 AgeOfPresentation:pheochromocytoma:20 PreviousTesting:NF1 PreviousTesting:RET Mutation:Germline MultipleGeneVariants AssumedRefSeq:AF010238.1 DiseaseEntity:hyperparathyroidism DiseaseEntity:medullarythyroidcancer MutationType:missense_variant;transversion cDNAposition:575 ProteinPosition:192 AminoAcidChange:PROtoARG CivicName:P192R(c.575C>G) ClinVarID:825946 ClinVarID:Yes Familial inferred_gene_hgnc:28648 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary-wiley-com.uhn.idm.oclc.org/doi/full/10.1111/j.1365-2362.2009.02174.x
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Outcome and genetic analysis of patients affected by retinal capillary hemangioblastoma in von Hippel Lindau syndrome
    2
    1. ClingenBaseline 25 Oct 2026
      Patient P2 A 42-year-old woman was referred to the Eye Clinic due to a lesion in OS. OD was normal. BCVA was 20/25, and a peripheral RCH with a macular pseudohole was observed at the fundoscopic examination (Figure 3). The tumor was treated using laser photocoagulation and required several treatment sessions. One week after the first laser session, the pseudohole progressed to a lamellar macular hole (LMH) and after some months, to a FTMH. BCVA worsened to 20/63 in 2012, and pars plana vitrectomy was successfully performed: The macular epiretinal membrane and internal limiting membrane were peeled. During follow-up, a retinal tear was detected (in 2014), and it was treated using a barrage laser. The last follow-up visit (in September 2019) revealed a good macular profile and RCH regression; BCVA in OS was 20/25. During the follow-up, OS did not develop lesions.

      PatientID: 2

      KindredID: 2

      Case: F, 52Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: A family pedigree is provided. Both the mother and daughter of patient 2 were found to have the same mutation. Neither the 61-year-old mother, nor the 6-year-old daughter had RCHs. The mother had other tumours, which were not specified.

      CasePresentingHPOs: HP:0001737; HP:0031152 (Retinal capillary hemangioma; full-thickness macular hole)

      CaseHPOFreeText: The patient underwent a retinal examination at 42Y0M due to a lesion in her left eye. This eyes had 20/25 vision snd a peripheral retinal capillary hemangioma (RCH) was detected in this left eye and laser was performed. A week later it turned into a lamellar macular hole and she underwent a vitrectomy, her vision also got worse. In her follow up appointment in 2014, a retinal tear was detected and treated with laser. In 2019, the left eye did not develop any lesions (table 1).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Patient did not seem to have have any other tumours.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P192L (c.575C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 526677, https://www.ncbi.nlm.nih.gov/clinvar/variation/526677/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P192L (c.575C>T)

      MultipleGeneVariants: N/Afa

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition FamilyPedigree DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:retinalcapillaryhemangioma:42 CivicName:P192L(c.575C>T) ClinVarID:Yes ClinVarID:526677 cDNAPosition:575 ProteinPosition:192 AminoAcidChange:PROtoLEU DiseaseEntity:VHL DiseaseEntity:full-thicknessmacularhole Familial AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:7010 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 23 Oct 2026
      P3F2F12661nyOU20/250nn20/25nnn

      PatientID: 3

      KindredID: 2

      Case: F, 71Y0M, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: A family pedigree is provided. Patient’s daughter and granddaughter have the same mutation. Patient’s daughter had a retinal capillary hemangioma and lamellar macular hole in the left eye. The granddaughter did not seem to be affected.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: The patient has tumours, but which she has were not specified (table 1).

      CaseNotHPOs: HP:0001737 (Retinal capillary hemangioma)

      CaseNotHPOFreeText: Patient did not have retinal capillary hemangiomas.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P192L (c.575C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 526677, https://www.ncbi.nlm.nih.gov/clinvar/variation/526677/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P192L (c.575C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition FamilyPedigree ClinVarID:526677 CivicName:P192L(c.575C>T) cDNAPosition:575 ProteinPosition:192 AminoAcidChange:PROtoLEU ClinVarID:Yes DiseaseEntity:VHL Familial AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:7010 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC8416136/