Clinical, Genetics, and Bioinformatic Characterization of Mutations Affecting an Essential Region of PLS3 in Patients with BMND18

Figure 1

Genetic characterization of the patient described. (a) Family pedigree. Mutation status of PLS3 c.745G > T is indicated beneath symbols for each subject. WT indicates wild-type. (b) Schematic representation of the mapped exome sequencing reads visualized using the Integrative Genomics Viewer (IGV) browser for the proband and his parents. The red lines indicate the mutation. (c) Sanger sequencing of three individuals in the family over the c.745 position in PLS3. The upper panel shows the c.745G > T variant in the patient, the middle panel shows c.745G > T mutation in the heterozygous mother, and the lower panel shows WT in the patient’s father.

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