CCDC40 mutations in PCD patients with an absence of IDAs associated with axonemal disorganisation
| Patients | Origin | Sex | Consanguinity | Laterality defects | Sperm defects | Allele 1 | Allele 2 |
| DCP102 | France | M | Y | Kartagener | AZS | c.1345C>T (p.Arg449X) | c.1345C>T (p.Arg449X) |
| DCP815* | France | F | N | N | – | c.248delC (p.Ala83ValfsX84) | c.248delC (p.Ala83ValfsX84) |
| DCP353 | France | M | N | Kartagener | NA | c.248delC (p.Ala83ValfsX84) | c.2119G>T (p.Glu707X) |
| DCP143 | Sicilia | M | N† | N | AZS | c.344delC (p.Pro115ArgfsX52) | c.574C>T (p.Gln192X) |
| DCP379 | North Africa | F | N | N | – | c.1464delC (p.Ser489AlafsX18) | c.1464delC (p.Ser489AlafsX18) |
| DCP852 | France | F | N | Kartagener | – | c.2591_2592delCAinsACCG (p.Thr864AsnfsX10) | c.2712-1G>T |
| DCP591* | Portugal | M | N | N | – | c.2920C>T (p.Gln974X) | c.1989+ ?_3021+?del |
| DCP619* | Algeria | F | Y | Kartagener | – | c.3242_3245dupGGCG (p.Tyr1083AlafsX104) | c.3242_3245dupGGCG (p.Tyr1083AlafsX104) |
Novel mutations are in bold characters; other mutations have been reported previously.24
↵* Homozygosity or compound heterozygosity was confirmed by parental DNA analysis or cloning of PCR products.
↵† The two parents originate from the same village.
AZS, asthenozoospermia; F, female; IDA, inner dynein arms; M, male; N, no; NA, not available; PCD, primary ciliary dyskinesia; Y, yes.