Table I.
Clinical characteristics and genotypes of patients with CCDC114 variants.
| Study (ref.) | Patient | Sex | Age (years) | Situs | Neo RDS | Bxsis | Sinusitis | Otitis media | Other symptoms | Variant | Zygosity | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Onoufriadis | Family 1 | II:3 | M | NA | SS | − | + | + | + | − | c.742G>A | Homozygote |
| et al, 2013 | II:4 | M | NA | DEX | NA | + | + | − | − | |||
| (23) | II:7 | F | NA | NA | NA | NA | NA | NA | NA | |||
| III:1 | M | NA | SS | + | NA | + | + | CHD | ||||
| III:2 | M | NA | SI | − | NA | + | + | − | ||||
| III:3 | M | NA | SI | − | NA | − | + | − | ||||
| III:5 | F | NA | SS | − | + | − | + | − | ||||
| III:8 | M | NA | SS | − | NA | − | + | − | ||||
| Family 2 | II:2 | F | NA | SS | − | + | + | + | − | |||
| Family 3 | I:1 | F | NA | SS | NA | + | + | + | − | |||
| Family 4 | II:1 | M | NA | SS | − | NA | − | + | − | |||
| II:2 | F | NA | Abdominal SI | − | NA | − | + | − | ||||
| Family 5 | II:1 | F | NA | SS | − | NA | NA | + | − | |||
| Family 6 | II:1 | M | NA | SS | − | NA | + | + | − | |||
| Family 7 | II:1 | M | NA | SI with medial heart position | − | NA | − | + | CHD | |||
| Family 8 | II:1 | F | NA | SI | + | NA | − | − | − | |||
| Family 9 | II:1 | F | NA | SI | − | + | + | + | CHD | c.486+1G>A | Homozygote | |
| Knowles et al | Family 10 | III:1 | F | 39 | SS | + | + | + | + | − | c.742G>A | Homozygote |
| 2013(55) | III:3 | F | 33 | SS | + | + | + | + | − | |||
| Family 11 | I:3 | F | 59 | SS | + | + | + | + | − | c.742G>A; | Compound | |
| c.487−2A>G | heterozygote | |||||||||||
| Family 12 | IV:3 | M | 3 | SS | + | − | − | + | − | c.742G>A; | Compound | |
| c.1391+5G>A | heterozygote | |||||||||||
| Family 13 | II:1 | F | 38 | SS | − | NA | NA | + | − | c.742G>A; | Compound | |
| c.939delT | heterozygote | |||||||||||
| II:2 | F | 34 | SS | − | + | + | + | − | ||||
| Li et al, 2019(52) | Family 14 | III:1 | F | 15 | SS | − | + | + | − | Multiple organ dysplasia, renal fibrosis and CHD | c.596C>T (p.A199V) | Homozygote |
| Present study | Family 15 | II:1 | F | 62 | SI | − | − | − | − | − | c.584T>C (p.L195P) | Homozygote |
CCDC114, the coiled-coil domain containing 114 gene; M, male; F, female; SS, situs solitus; SI, situs inversus; DEX, dextrocardia; Neo RDS, neonatal respiratory distress; Bxsis, bronchiectasis; CHD, congenital heart disease; +, present; –, absent; NA, not available.