Figure 1.

Family study results. (a) Heterozygous stop-gained mutation c.1301C>G in DCAF5 was confirmed in patient (A) and excluded in the patient’s parents (B—mother, C—father) (family on the left). (b) Homozygous missensse mutation c.1040T>C in NARS1 (A— patient). Parents proved to be carriers (B—mother, C—father), and the siblings are wild-type homozygotes (D—brother, E—sister) (family on the right). Circle represents female, square indicates male, filled symbol indicates affected individual, proband is marked with a black arrow; wt—wild-type.