Research Article
Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary Dyskinesia and Kartagener Syndrome
Table 1
Clinical manifestations and semen parameters of the two PCD individuals carrying CCDC39 variants.
| | Individual | F1 II-1 (female) | F2 II-1 (male) |
| | PCD-related phenomenon | | | | | | Rhinosinusitis | No | | | No | | Wet cough | Yes | | | Yes | | Otitis media | No | | | No | | Bronchiectasis | Yes | | | Yes | | Situs inversus | Yes | | | Yes | | Congenital heart disease | No | | | No | | Semen analysis | | | | | | Semen volume (mL) | / | | | 6.7 | | Sperm concentration (106/mL) | / | | | 1.4 | | Progressive motility (%) | / | | | 0 | | Normal morphology (%) | / | | | 0 | | Sperm vitality (%) | / | | | NA | | Sperm morphology | | | | | | Absent flagella (%) | / | | | 3.5 | | Short flagella (%) | / | | | 5.0 | | Coiled flagella (%) | / | | | 82.5 | | Angulation (%) | / | | | 1.5 | | Irregular caliber (%) | / | | | 1.0 |
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Abbreviations: PCD: primary ciliary dyskinesia; N/A: not available.
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