Fig. 1

GPI deficiency in the pedigree and the verification results of Sanger sequencing. (A): Third-generation kindred in the pedigree and associated GPI genotype based on genetic testing data and clinical presentation. The shaded square and variant 1 (V1): c.633 + 3 A > G variant; solid filled black and variant 2 (V2): c.295G > T variant. The arrow represents the proband. The compound heterozygous variants, V1 and V2, in the GPI gene of the proband inherited from the father (II-1) and the mother (II-2), respectively. (B): Peripheral blood smears of the proband. (C): The c.633 + 3 A > G variant in the GPI gene of the proband. (D): The same variant in the father. (E): No mutations were found in the mother. (F) The exon 3: c.295G > T variant in the GPI gene of the proband. (G): No mutations were found in the father. (H): The same variant in the mother