Reinvestigation of unidentified causative variants in FXI-deficient patients: Focus on gene segment deletions.
Philippe De MazancourtAnnie HarrocheKatia PouymayouMarianne SigaudCéline FalaiseNatalie StieltjesSabine-Marie CastetBrigitte TardyChristophe ZawadzkiJenny GoudemandYesim DargaudPublished in: Haemophilia : the official journal of the World Federation of Hemophilia (2022)
Given the high incidence of deletions in our population (2.9%), MLPA (or NGS with a reliable bioinformatic pipeline) should be systematically performed for unsolved FXI deficiencies or apparently homozygous cases in non-consanguineous families.