Table 3 Results from the tools used to determine the diagnosis of patients with phenotypes compatible with primary ciliary dyskinesia (PCD).

From: Severe pulmonary disease in an adult primary ciliary dyskinesia population in Brazil

Patient

PICADAR/

Laterality disorder/Cg*/sibling

nNO

(nL/min)

CBF/CBP

Cilia US

(TEM)

Cilia IF altered

Results (OBr code)

Genetic compatible with PCD diagnosis

Diagnosis

Br-1

4

8.9

Static

OIDA

DNAH5 (OBr31)

—

PCD

Br-2**

4

27.6

2.5 - Circle

ACP

RSPH9 (OBr35)

—

PCD

Br-3

12*, SI

5.7

Static

ODA

rs

DNAI2 a,d

PCD

Br-4

6*

9.6

Red ampl

MTD + IDA

CCDC39 (OBr9)

—

PCD

Br-5

10, SI, s1

14.1

1.7 - Static

ODA

DNAH5 (OBr32)

—

PCD

Br-6 π

3*

4.2

1.7 - Red ampl

MTD + IDA

CCDC39 (OBr19)

RPGR(X-chrom)

PCD

Br-7 £

8*, SI

6.5

1.7- Red ampl

MTD + IDA

CCDC39 (OBr30)

CCDC40 a,d

PCD

Br-8

8

14.4

1.7- Red ampl

MTD + IDA

nd

CCDC40 a,d

PCD

Br-9

4

15.5

Static

OIDA

rs

—

PCD

Br-10

9*, SI

2.1

Altered

MTD + IDA

CCDC39 (OBr17)

CCDC39 a,d

PCD

Br-11

9*, SI, s2

7.5

1.7 - Red amp

MTD + IDA

CCDC39 (OBr10)

CCDC40 a,d

PCD

Br-12

7*, SI

18.3

Static

ODA

DNAH5 (OBr3)

CCDC151 a,d

PCD

Br-13

8*, SI, s3

7.4

Static

MTD + IDA

CCDC39 (OBr5)

—

PCD

Br-14

8, Ps

10.1

Static

OIDA

DNAH5 (OBr8)

DNAAF3 a,d

PCD

Br-15

8*, SI, s4

9.6

Altered

OIDA

DNAH5 (OBr21)

—

PCD

Br-16

12*, SI

18.6

3.3 - Red ampl

MTD + IDA

CCDC39 (OBr1)

CCDC40 a,d

PCD

Br-17

4

21.8

1.7 - Altered

ACP

GAS8 (OBr29)

RSPH1 a,d

PCD

Br-18

10*, CHD

17.1

Altered

ODA

DNAH5 (OBr6)

—

PCD

Br-19

4*, s4

7.5

1.7 - Altered

OIDA

nd

—

PCD

Br-20***

3*, s4

10.1

Static

OIDA

nd

DNAH11 c,d

PCD

Br-21

7*, SI

8.1

Static

ODA

DNAH5 (OBr12)

DNAH5 a,d

PCD

Br-22

9*, SI

5.9

Static

OIDA

nd

DNAAF3c,d

PCD

Br-23

8, s5

16.2

5 - Circle

ACP + T

nd

RSPH1 a,d

PCD

Br-24

8, SI

9.3

Altered

ODA

na

DNAH5 a,d

PCD

Br-25

6*, s2

nd

nd

MTD + IDA

nd

CCDC40 a,d

PCD

Br-26

8*, SI, s6

nd

nd

ODA

nd

DNAH5 a,d

PCD

Br-27

8*, SI, s6

nd

nd

ODA

nd

DNAH5 a,d

PCD

Br-28

6*, SI, s7

nd

nd

MTD + IDA

nd

CCDC40 a,d

PCD

Br-29

4, s5

nd

nd

ACP + T

nd

RSPH1 a,d

PCD

Br-30**

10, SI, s1

nd

nd

ODA

nd

—

PCD

Br-31**

10, SI, s1

nd

nd

ODA

nd

—

PCD

Br-32

8*, SI, s7

nd

nd

MTD + IDA

nd

CCDC40 a,d

PCD

Br-33

8, SI

nd

nd

ODA

nd

—

PCD

Br-34**

5*, s3

nd

nd

MTD + IDA

nd

—

PCD

Br-35

8, SI

19.8

nd

MTD + IDA

CCDC39 (OBr27)

CCDC40 a,d

PCD

Br-36

7

4.2

nd

ODA

DNAH5 (OBr23)

Not consent

PCD

Br-37

4

34.2

3.3-Circle

ACP + T

na

—

PCD

Br-38

4

10.4

Altered

MTD + IDA

nd

Not consent

PCD

Br-39

10*, SI

nd

nd

OIDA

nd

DYX1C1-CCPG1 c,d

PCD

Br-40

10*, s8

46.5

5.0-Altered

Inconcl.

nd

DYX1C1-CCGP1 b,d

PCD

Br-41

7, * SI, s8

nd

nd

Inconcl.

nd

DYX1C1-CCGP1 b,d

PCD

Br-42**

6*

7.1

3.3-Circle

ACP

nd

—

PCD

Br-43

13, Dx

39.5

Altered

Normal

DNAH11 (OBr15)

—

PCD probable

Br-44

3

28.7

Altered

Normal

na

—

PCD probable

Br-45

6*

11

1.7-Altered

Normal

nd

—

PCD probable

Br-46

8*

8.3

1.7-Static

Normal

na

—

PCD probable

Br-47

14, Dx

23.6

1.7-Red ampl

Normal

na

—

PCD probable

Br-48

9, Dx

84.3

1.7-Red ampl

Normal

na

—

Clinical PCD

Br-49

9, SI

41.9

Altered

Normal

na

—

Clinical PCD

  1. Legend: *consanguineous; **the altered transmission electronic microscopy was used to determine the PDC diagnosis; πPac6 RPGR X linked mutations is rarely associated with respiratoy cilia defect; £Pac7 CCDC39 is reduced or absent in CCDC40 loss of function mutation; ***Pac20: TEM: 20% of cilia with OIDA, the genetic variants were: CFTRc,e/DNAH5c,e/DNAH11c,d/DYX1C1-CCPG1a,e; nNO, nasal nitric oxide; nL/min, normal litres per minute; CBF: Cilia Beat Frequency; CBP: Cilia Beat Pattern; US, ultrastructure; TEM, transmission electronic microscopy; IF, immunofluorescence; SI, situs inversus; Dx, dextrocardia; CHD, cardiac heart disease; Ps, polysplenia; sn, sibling number; ODA, outer dynein arm; OIDA, outer inner dynein arm; MTD + IDA, microtubular disorganisation + inner dynein arm; APC, absence of central pair; ACP + T, absence of central pair + transposition; Red ampl, reduced amplitude; Inconcl, inconclusive; OBr: Omran-Brazil laboratory code; rs: repeat sample; na: not altered; nd: not done; CCDC151, Coiled-Coil Domain Containing 151; CCDC39, Coiled-Coil Domain Containing 39; CCDC40, Coiled-Coil Domain Containing 40; DNAI2, Dynein Axonemal Intermediate Chain 2; DNAH5, Dynein Axonemal Heavy Chain 5; DNAH11, Dynein Axonemal Heavy Chain 11; DNAAF3, Dynein Axonemal Assembly Factor 3; DYX1C1-CCPG1, Dyslexia Susceptibility 1 Candidate 1 and Cell Cycle Progression 1; GAS8, Growth Arrest Specific 8; RSPH1, Radial Spoke Head 1 Homolog; RSPH9, Radial Spoke Head 9 Homolog; RPGR, Retinitis Pigmentosa Gtpase Regulator X Cromossome, in hemizygous. Additional information about genetic screening: aproved PCD variant; bvariant with probably pathogenic outcome on Polyphen predictor and/or deleterious outcome on Sift predictor; cuncertain significance; dhomozygotes; eheterozygotes; bold type, PCD diagnosis using genetic screening, also the other uncertain significance variants are shown in the Supplementary File (Table S5). The complete data regarding the genotypes divided by patient are presented in Supplementary File (Table S2) and Supplementary File (Table S5). Additionally, we included information about the genetic variants with proved pathogenicity in Supplementary File (Table S3) and data regarding the genetic variants with uncertain significance to pathogenicity in Supplementary File (Table S4). The patients Br-6 (X-linked gene), Br-20, Br-22, Br-39, Br-40 and Br-41 (homozygotes to uncertain significance mutations in PCD-causing genes) were considered to have a genetic PCD diagnosis, however, more studies should be performed to reach a better conclusion. Furthermore, the results may contain genetic variants of unknown significance, and a genetic diagnosis may not be clearly established. Thus, genetic counselling is recommended.
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