Figures
- FIGURE 1
Study population and the results of whole-exome sequencing (WES) analysis. nNO: nasal nitric oxide; TEM: transmission electron microscopy; PCD: primary ciliary dyskinesia. #: meeting inclusion criteria (see main text).
Tables
- TABLE 1
Characteristics of patients evaluated for primary ciliary dyskinesia
All patients Positive Negative Inconclusive Subjects 48 36 8 4 Age at assessment years median (range) 10.0 (1–37) 12.1 (1.0–37) 9.6 (1–23) 6.5 (4–10) 0–5 years 13 (27%) 7 (21%) 4 (50%) 2 (50%) 5–18 years 27 (56%) 22 (61%) 3 (38%) 2 (50%) >18 years 8 (17%) 7 (21%) 1 (13%) 0 (0%) Male 21 (44%) 14 (39%) 5 (63%) 2 (50%) Consanguinity 34 (71%) 32 (76%) 2 (50%) 4 (100%) Ethnicity Jewish 13 (27%) 7 (19%) 4 (50%) 2 (50%) Arabic 35 (73%) 29 (81%) 4 (50%) 2 (50%) Other Bronchiectasis 46 (96%) 34 (94%) 7 (88%) 4 (100%) Associated conditions# 11 (23%) 10 (28%) 1 (13%) 0 (0%) Neonatal respiratory distress 15 (31%) 13 (36%) 0 (-%) 2 (50%) Diagnostic assessment performed nNO measurement 48 (100%) 36 (100%) 8 (100%) 4 (100%) TEM for ciliary structure 41 (85%) 31 (86%) 6 (75%) 4 (100%) nNO: nasal nitric oxide; TEM: transmission electron microscopy. #: situs abnormalities or retinitis pigmentosa.
- TABLE 2
Primary ciliary dyskinesia causing genes in our cohort and the related prevalence of situs abnormalities and neonatal distress, and associated findings by transmission electron microscopy (TEM) and nasal nitric oxide (nNO) measurements
Gene (n=34) Locus Situs abnormalities Neonatal respiratory distress TEM nNO ppb mean (range) DNAAF3 (n=2) 19q13 0 1 ODA+IDA 46 (32–60) DNAH11 (n=9) 7p15–21 1 3 Normal 41.8 (10–79) DNAI1 (n=4) 9p21–p13 1 1 Normal/short ODA 34.5 (20–70) DNAI2 (n=3) 17q25.1 1 2 Normal/orientation/ODA+ IDA 41.3 (30–47) DYX1C1 (DNAAF4) (n=1) 15q21 1 0 Short ODA+IDA 55 HYDIN (n=3) 16q22 0 1 Normal 59.6 (19–90) LRRC50 (DNAAF1) (n=2) 16q24 2 2 ODA+IDA 65 LRRC6 (n=6) 8q24 4 2 ODA+IDA 81.9 (12–328) MCIDAS (n=2) 5q11 0 0 Absence of ciliary cells 57 (54–60) RSPH4A (n=1) 6q22 0 0 Normal 38 RSPH9 (n=1) 6p21 0 1 Normal 48 ODA: outer dynein arm; IDA: inner dynein arm.
- TABLE 3
Diagnostic accuracy of nasal nitric oxide (nNO), transmission electron microscopy (TEM) and genetic evaluation for diagnosis of primary ciliary dyskinesia
nNO <77 nL·min−1 nNO <30 nL·min−1 TEM WES All subjects, including unresolved diagnosis (n=57) 48 48 41 48 Sensitivity (95% CI) 100 (89.1–100) 93.8 (79.2–99.2) 62.2 (44.8–77.5) 94.4 (81.3–99.3) Specificity (95% CI) 50.0 (21.1–78.9) 75.0 (42.8–94.5) 85.7 (57.2–98.2) 100 (73.5–100) ROC area (95% CI) 0.75 (0.60–0.90) 0.84 (0.71–0.98) 0.74 (0.62–0.86) 0.97 (0.93–1.0) WES: untargeted whole-exome sequencing; ROC: receiver operating characteristic.
- TABLE 4
Diagnostic accuracy of nasal nitric oxide (nNO)
nNO <77 nL·min−1 nNO <77 nL·min−1 and WES ≤5 years >5 years All All subjects, including unresolved diagnosis (n=48) Sensitivity (95% CI) 100 (47.8–100) 100 (87.2–100) 100 (89.1–100) 93.8 (79.2–99.2) Specificity (95% CI) 33.3 (4.3–77.7) 66.7 (22.3–95.7) 50.0 (21.1–78.9) 100 (73.5–100) ROC area (95% CI) 0.67 (0.46–0.87) 0.83 (0.63–1.00) 0.75 (0.60–0.90) 0.97 (0.93–1.0) Subjects with unresolved diagnosis excluded (n=40) Sensitivity (95% CI) 100 (47.8–100) 100 (87.2–100) 100 (89.1–100) 93.8 (79.2–99.2) Specificity (95% CI) 50.0 (6.8–93.2) 100 (39.8–100) 75 (34.9–96.8) 100 (63.1–100) ROC area (95% CI) 0.75 (0.47–1.0) 1.0 0.88 (0.72–1.0) 0.97 (0.93–1.0) WES: untargeted whole-exome sequencing; ROC: receive operating characteristic.
Supplementary Material
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Supplementary material 00213-2020.SUPPLEMENT
