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

Figure 2

Identification of biallelic variants of CCDC39 in two PCD patients. (a) Pedigree and genotypes of two PCD family members carrying CCDC39 variants. The probands are marked with black arrows. The red arrow and dashed boxes indicate mutated locations in the Sanger sequencing results. (b) A schematic diagram of mutated positions that occurred in the genomic and protein structure of CCDC39. The red arrows indicate the locations of CCDC39 variants occurred in the domain of CCDC39 protein. WT: wild type; M: CCDC39 variant.

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