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    Identification and Genetic Analysis of a Factor IX Gene Intron 3 Mutation in a Hemophilia B Pedigree in China
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    1. ClingenBaseline 25 Oct 2026
      6 months of age, the proband (male, born on 20 February 2008)

      Case2: 6-month-old Male, China

      DiseaseAssertion: Hemophilia B (Factor IX-deficient)

      FamilyInfo: Mother and maternal grandmother are HB carriers due to a novel mutation in intron 3. Pedigree shown in Figure 1.

      ParentalTesting: The F9 exons were amplified (RT-PCR) and exons 1 to 8 of the F9 gene were analyzed with the ABI 3130 Genetic Analyzer, Sequenced intron 3 of the F9 gene

      CasePresentingHPOs: HP:0011858 (Reduced factor IX activity)

      CaseHPOFreeRext: FIX:C 1%, Pelioma, Cyanotic bumps, Subcutaneous bleeding, knee swelling from crawling

      CasePreviousTesting: Prenatal testing at 20 weeks

      Gene: F9

      Variant: NM_000133.3(F9):c.278-3A>G

      ClinVar: 92225 https://www.ncbi.nlm.nih.gov/clinvar/variation/92225/#id_first

      CAID: CA285284

      gnomAD: Not Reported

      CaseInfo Gene:F9 HGNC:3551 DiseaseEntity:FactorIXDeficiency InheritancePattern:Xlinked Mutation:Intronic FIXtesting:Partial Zygosity:NoZygosityAssertion FamilyInfo ParentalTest:Both ClinVarID:92225 CAID:CA285284 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC4287022/