Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary Dyskinesia and Kartagener Syndrome

Figure 1

Clinical characteristics of two PCD patients. (a–c) Chest CT scanning of F1 II-1. (d–f) Chest CT scanning of F2 II-1. Blue arrows: chronic inflammatory changes and bronchiectasis of the lung lobes. White arrow: typical cardiac inversion. Green arrows: aortic arch is located on the right side of the chest cavity. Red arrows: ectopic internal organs (liver, stomach, and spleen). Scanning electron micrograph of spermatozoa from F2 II-1 indicates the MMAF phenotype, including (g) short and (h) coiled sperm flagella (scale bars, 10 μm). (i) The results of western blotting show decreased expression level of CCDC39 protein in the spermatozoa of F2 II-1. NC: normal control.

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