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Article Dans Une Revue Haemophilia Année : 2023

Five new F10 variants in hereditary factor x deficiency detected by high-throughput sequencing

Résumé

Factor X deficiency is a rare inherited bleeding disorder. To date, 181 variants are reported in the recently updated F10-gene variant database.This study aimed to describe new F10 variants.The gene was analysed 16 consecutive families with FX by targeted high-throughput sequencing approach, including F10, F9, F8 genes, and 78 genes dedicated haematological malignancies.We identified 19 (17 missense, one nonsense frameshift) two copy number variations. Two patients presenting combined FVII-FX showed loss of (del13q34) associated missense on remaining allele, leading FX:C significantly lower than FVII:C level explaining their unusual history. We five novel variants. Three (p.Glu22Val affecting signal peptide cleavage site, p.Cys342Tyr removing disulphide bond between heavy light chains, p.Val385Met located peptidase S1 domain) were detected at compound heterozygosis status three severe symptoms below 10 IU/dL. truncating p.Tyr279* p.Thr434Aspfs*13 an altered protein found heterozygous state mild history.This feasibility interest approach for disorders, enabling report screening 3-weeks delay, suitable clinical use. The description may contribute better understanding phenotype-genotype correlation deficiency.

Dates et versions

hal-04285503 , version 1 (14-11-2023)

Identifiants

Citer

Cédric Pastoret, Clementine Wahl, Sabine Castet, Fabienne Nédelec-Gac, Adeline Pontis, et al.. Five new F10 variants in hereditary factor x deficiency detected by high-throughput sequencing. Haemophilia, 2023, 29 (6), pp.1565-1572. ⟨10.1111/hae.14888⟩. ⟨hal-04285503⟩
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