Figure 1. Homozygous DDRGK1 loss-of-function mutation identified in Iraqi Jewish families with Shohat-type SEMD.

(A) Pedigree of family 1. M represents mutant allele. Asterisks indicate individuals who were selected for WES. (B) Radiographs from family 1 reveal platyspondyly and hypomineralized epiphyses and metaphyses in patients 1 and 2, respectively. (C and D) Pedigrees of families 2, 3, and 4. (E) Radiographs show severe scoliosis, vertebral compression factures, platyspondyly, broaden hypomineralized metaphyses, and smaller than average hypomineralized epiphyses in patient 5 from family 4. (F) Schematic of the c.408+1G>A mutation in the DDRGK1 gene. (G) Western analysis of whole cell lysates reveals absence of DDRGK1 expression in patient LCLs.