TABLE 1.
Genetic and clinical findings in C1d-defective PCD individuals
| Individual | Genetics | Clinical data | PICADAR | |||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Allele 1 | Allele 2 | Cons. | Gender | AAD (years) | Situs | nNO (nL·min−1) | HSVMA (native) | HSVMA (after ALI) | TEM | CRD | Bx/MP | FT gest. =2 | NCS =2 | NICU =2 | Situs abn. =4 | CHD =2 | CR =1 | CEHS =1 | Total | |
|
CFAP46 NM_001200049.3 | ||||||||||||||||||||
| OP-64 II2 | c.19C>T, p.Gln7Ter | c.7286-2A>G, p.Glu2429Gly_Met2430insfsTer9 | No | M | 23 | Solitus | 235.6 | Normal | Normal | Normal | Yes | Yes | Yes | No | No | No | No | Yes | Yes | 4 |
|
CFAP54 NM_00000524981.9 | ||||||||||||||||||||
| OI-102 II1 | c.4688C>A, p.Ser1563Ter | c.4688C>A, p.Ser1563Ter | Yes | M | 22 | Solitus | NA | NA | NA | NA | Yes | Yes | NA | NA | NA | no | NA | NA | NA | NA |
| OP-1245 II1 | c.3953C>A, p.Ser1318Ter | c.6264+5_6264+8del, p.Gly2028_Ile2088del | No | F | 25 | Solitus | 182.3 | Normal | Normal | Normal | Yes | Yes | Yes | No | No | No | No | Yes | No | 3 |
| OP-1822 II1 | c.2283G>T, p.Lys761Asn_Arg762insTer7 | c.5671C>T, p.Arg1891Ter | No | M | 16 | Solitus | 176.4 | Normal | Normal | Normal | Yes | Yes | Yes | Yes | Yes | No | No | No | No | 6 |
| OP-4023 II1 | c.1852A>T, p.Lys618Ter | c.7220-1delG, p.? | No | F | 2 | Solitus | NA | Normal | NA | NA | Yes | NA | Yes | Yes | Yes | No | No | Yes | No | 7 |
|
CFAP74 NM_001304360.2 | ||||||||||||||||||||
| OP-3882 II1 | c.907del, p.Gln303LysfsTer65 | c.4380_4381dup, p.Phe1461SerfsTer12 | No | M | 48 | Solitus | NA | NA | Normal | Normal | Yes | Yes | Yes | No | No | No | No | No | No | 2 |
| OP-3882 II2 | c.907del, p.Gln303LysfsTer65 | c.4380_4381dup, p.Phe1461SerfsTer12 | No | F | 57 | Solitus | 251.5 | Normal | Normal | Normal | Yes | Yes | Yes | No | No | No | No | No | No | 2 |
| OP-4027 II1 | c.1706dup, p.Gly570TrpfsTer10 | c.4380_4381dup, p.Phe1461SerfsTer12 | No | M | 14 | Solitus | 504.6 | Normal | NA | NA | Yes | NA | Yes | No | No | No | No | Yes | No | 3 |
|
CFAP221 NM_001271049.2 | ||||||||||||||||||||
| OP-2697 I2 | c.1641dup, p.Asn548GlnfsTer6 | c.1641dup, p.Asn548GlnfsTer6 | Yes | F | 39 | Solitus | 28.9 | Normal | NA | Normal | Yes | Yes | Yes | No | No | No | No | Yes | Yes | 4 |
Genetic and clinical data of PCD individuals with pathogenic variants in CFAP46, CFAP54, CFAP74 and CFAP221. The parameters of PICADAR are applied to the identified C1d-defective PCD individuals. The total scores result from the addition of the respective points and correspond to the following probabilities of having PCD: 2=0.8%; 3=1.9%; 4=4.7%; 6=23.9%; 7=44.1%. The maximum score is 14 [8]. PCD: primary ciliary dyskinesia; Cons.: consanguinity; AAD: age at diagnosis; nNO: nasal nitric oxide production rate; HSVMA: high-speed videomicroscopy analysis; ALI: air–liquid interface; TEM: transmission electron microscopy; CRD: chronic respiratory disease; Bx/MP: bronchiectasis/mucus plugging; FT gest.: full-term gestation; NCS: neonatal chest symptoms; NICU: neonatal intensive care admittance; Situs abn.: situs abnormalities; CHD: congenital heart defect; CR: chronic rhinitis; CEHS: chronic ear and hearing symptoms; M: male; NA: not available; F: female.