FIGURE 3.

The pedigrees and identified GTPBP3 mutations. (A) In family 1, the c.413C > T (p. A138V) mutation was detected in the proband and his father, c.509_510del (p. E170Gfs*42) was detected in the proband and his mother. As shown in the pedigree of the nuclear family, c.509_510del (p. E170Gfs*42) was found in his brother as validated by Sanger sequencing. (B) Mutations identified in family 2 as confirmed by Sanger sequencing. The c.544G > T (p. G182X) mutation was found in the proband and her father, and the c.785A > C (p.Q262P) mutation was found in the proband and her mother. As shown in the pedigree of the nuclear family, there is a history of firstborn spontaneous abortion of the mother at the 7th week of gestation. (C) Mutations found in family 3 as confirmed by Sanger sequencing. The c.785A > C (p.Q262P) was found in the proband and her father, mutation c.424G > A (p.E142K) was found in the proband and her mother. The arrow indicates the proband.