Table 1 Cases of published DNAAF2 variants. RDS, respiratory distress syndrome; TEM, transmission electron microscopy; VSD, ventriculap septal defect; IDA, inner dynein arm; ODA, outer dynein arm; - not available

c.1160 A > G(p.

Glu387Gly)

F

-

Turkish

-

-

c.472G > T(p.Glu158Term)

F

7

-

VSD, Eisenmenger syndrome

-

c.23 C > A(p.Ser8Term)

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.2147 C > T(p.

Ala716Val)

F

-

European

Developmental disorder

-

c.156 C > A(p.Tyr52Term)

M

40

Asian

Recurrent bronchitis and

pneumonia, chronic

sinusitis, bronchiectasis,

situs inversus, infertility

ODA + IDA

c.26 C > A(p.Ser9Term)

c.727G > T(Glu243Term)

-

-

Swedish

-

-

c.2027_2028delCT(p.S676Term)

-

-

-

-

-

c.962 C > A(p.Ser321Term)

M

-

Greek-Cypriot

-

-

c.998 C > T(p.Ala333Val)

-

-

Dutch

-

ODA + partial IDA

c.1901T > C(p.Phe634Ser)

c.796 C > T(p.Gln266Term)

M

30

Asian

Kartagener Syndrome,

productive cough, hemoptysis, nasosinusitis, left-right laterality defects, azoospermia

-

c.1555delG(p.Glu519fs)

M

-

-

-

-

c.1891G > A(p.Val631Ile)

M

-

-

Infertility

-

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, situs inversus and infertility

ODA

c.822del (p.Ala275Profs*10)

F

53

Asian

Bronchiectasis, sinusitis and infertility

-

c.177_178insA (p.E60fs*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