Case1: 3-year-old boy

DiseaseAssertion: Severe Hemophilia B

FamilyInfo: The pathogenic mutation of F9 gene in this family was identified, Mother and Grandmother are HB carriers, Father tested negative. Pedigree shown in Figure 1.

ParentalTesting: Sequences at the mutation locus in F9 genes were analyzed by Sanger sequencing.

CasePresentingHPOs: NA

CaseHPOFreeText: Hemorrhagic spots on his skin at birth, Gingival bleeding, APTT 66.5 s, FIX:C < 1%, FVIII:C 116.8%

CasePreviousTesting: PCR amplification for coding and flanking sequences of F9 gene, PCR amplification products sequenced by Songon Biotech Co. Ltd.

Gene: F9

Variant: NM_000133.3:c.1232G>C (p.Ser411Thr)

ClinVar: NA

CAID: CA414446686

gnomAD: NA