cDNA change (Protein change)
Sex
Age( years)
Ethnicity
Clinical features
Ultrastructural defect
c.1160A>G(p. Glu387Gly)
F
-
Turkish
-
-
c.472G>T(p.Glu158Term) F 7 - VSD, Eisenmenger syndrome -
c.23C>A(p.Ser8*) M - - Chronic otitis media and sinusitis, recurrent pneumonia, bronchiectasis, removed middle lobe, complete situs inversus, impaired fertility ODA+IDA
c.1199_1214dupACGATACCTGCGTGGC (p.Gly406Argfs*89)
F
-
-
Chronic otitis media and sinusitis, recurrent pneumonia, bronchiectasis, complete situs inversus
ODA+IDA
c.564dupG(p.Lys189Glufs*5) - - - - ODA+IDA
c.2147C>T(p. Ala716Val)
F
-
European
Developmental disorder
-
c.156C>A(p.Tyr52Term)
M
40
Asian
Recurrent bronchitis and pneumonia, chronic sinusitis, bronchiectasis, situs inversus, infertility
ODA+IDA
c.26C>A(p.Ser9Term)
c.727G>T(Glu243Term) - - Swedish - -
c.2027_2028delCT(p.S676Term) - - - - -
c.962C>A(p.Ser321Term) M - Greek-Cypriot - -
c.998C>T(p.Ala333Val) - - Dutch - ODA+partial IDA
c.1901T>C(p.Phe634Ser)
c.796C>T(p.Gln266Term)
M
30
Asian
Kartagener Syndrom, producting cough, hemoptysis, naso-sinusitis, left-right laterality defects, azoospermia
-
c.1555delG(p.Glu519fs) M - - - -
c.1891G>A(p.Val631Ile) M - - Infetility -
c.31delG(p.Glu11Argfs*5) F 14 Italian Neonatal RDS, bronchiectasis, sinusitis ODA+IDA
c.491T>C (p.Leu164Pro) F 26 Asian Scoliosis, bronchiectasis, sinusitis, situsinversus and infertility ODA
c.822del (p.Ala275Profs*10) F 53 Asian Bronchiectasis, sinusitis and infertility -
c.177_178insA (p.E60Rfs*3) Novel
F
7
Asian
Recurrent respiratory tract infection, atelectasis, bronchiectasis, sinusitis and otitis media
-
M 10/12 Asian Pneumonia, atelectasis in lingular lobe, sinusitis, otitis media and hypertrophy of adenoids ODA+IDA