Fig. 1

Biallelic TTC21B and TTC12 mutations in five unrelated family trios with multisystem ciliopathy syndromes. A Pedigrees of families (F) 1–5 indicating the affected individuals and the segregation of TTC12 or TTC21B heterozygous variants. B Representative images of the clinical diagnosis of affected individuals (F1-II-1, F1-II-2, F3-II-1) using chest X-ray imaging, CT scans, or color ultrasound scans as indicated. A mirror-image arrangement of the abdomen is shown in F1-II-1 and F3-II-1. Color-Doppler at the parasternal long axis view showing the parallel relationship of the great arteries and ventriculo–arterial discordance with DORV, ASD and PS in F3-II-1 (right panel). C Sanger sequencing of recessive TTC12 and TTC21B variants in six affected individuals and their unaffected parents in five family trios with ciliopathy syndromes. Parent samples were not available for segregation analysis in Family 2