Table 1—

Description of the genes involved in primary ciliary dyskinesia(PCD)

GeneLocusDefective structureExonHot spotFounder mutationPhenotype
DNAH55p15ODA79+1Exons 34, 50, 63, 76, 77c.10815delTPCD+KS
DNAI19p21–p13ODA20Exons 13, 16, 17IVS1 + 3insTPCD+KS
DNAH117p15.3–21Normal82Not knownNot knownPCD+KS
TXNDC37p14.1ODA18Not knownNot knownKS
DNAI217q25.1ODA14Not knownNot knownPCD+KS
KTU14q21.3ODA+IDA3Not knownNot knownPCD+KS
RPGRXp21.1Variable∼25Not knownNot knownPCD with retinitis pigmentosa
OFD1Xp22Not known23Not knownNot knownPCD with mental retardation
RSPH96p21CP5Exon 5c.801_803delGAAPCD
RSPH4A6q22CP6Not knownNot knownPCD
  • DNAH5: dynein, axonemal, heavy chain 5 gene; DNAI1: dynein, axonemal, intermediate chain 1 gene; DNAH11: dynein, axonemal, heavy chain 11 gene; TXNDC3: thioredoxin domain containing 3 (spermatozoa) gene; DNAI2: dynein, axonemal, intermediate chain 2 gene; KTU: chromosome 14 open reading frame 104 gene; RPGR: retinitis pigmentosa guanosine triphosphatase regulator gene; OFD1: oral-facial-digital syndrome 1 gene; RSPH9: radial spoke head 9 homologue (Chlamydomonas) gene; RSPH4A: radial spoke head 4 homologue A (Chlamydomonas) gene; ODA: outer dynein arm; IDA: inner dynein arm; CP: central pair; c.: cDNA sequence; del: deletion; T: thymidine; IVS: intervening sequence; ins: insertion; G: guanine; A: adenine; KS: Kartagener’s syndrome.