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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review

Fig. 1

Sequencing and a genogram of the Trio. a:Schematic diagram of GNE exons. Mutation positions were labeled with black lines. b: The c.1351C > T mutation. This mutation is a non-sense mutation, where arginine (Arg) mutates to a termination codon, which is inherited from the mother. c: The c.1330G > T mutation. This mutation is inherited from the father and is a missense mutation, resulting when aspartic acid (Asp) mutates to tyrosine (Tyr). d: Parents are carriers of each mutation and show no phenotypes. The twins simultaneously inherited two mutations from their parents and presented with refractory thrombocytopenia several days after birth. e: 3D homology model changes induced by the c. 1330G > T and c.1351C > T mutations

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