Fig. 3.

Novel variant in intron 1 of SLC26A2 identified from the case XA-12. (A) Schematic representation of the genomic structure of SLC26A2. The variant g.18654T > C is located in intron 1, near the common “Finnish” pathogenic allele c.26+2T > C, which was previously identified in patients with diastrophic dysplasia. (B and C) Sanger sequencing of the g.18654T > C variant in the case XA-12. (D and E) Lateral view of X-ray or CT scan shows spondylolysis and grade-I spondylolisthesis of L5 (arrows).