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Table 1 Clinical features in Men Harboring ARMC2 Variants

From: Broadening the ARMC2 mutational phenotype: linking multiple morphological abnormalities of the Flagella to Pulmonary Manifestations in Primary Ciliary Dyskinesia

Subject

P1

P2

Reference Limits

Semen Parameter

 Semen volume (ml)

1.5

3.2

 > 1.5

 Semen pH

7.5

7.5

 

 Semen concentration (10^6/mL)

19.2

44.5

 > 15.0

 Motility (%)

41.5

0

 > 40.0

 Progressive motility (%)

23.2

0

 > 32.0

Sperm Morphology

 Normal tail (%)

6.4 (13/202)

5.9 (12/202)

 > 23.0

 Absent flagella (%)

23.3 (47/202)

37.1 (75/202)

 < 5.0

 Short flagella (%)

27.7 (56/202)

42.1 (85/202)

 < 1.0

 Coiled flagella (%)

42.6 (86/202)

14.9 (30/202)

 < 17.0

 DNA Fragmentation Index (DFI)%

13.4

29.9

 < 15

Phenotypic features

 Airway Disease

   

 Recurrent airway infections

NO

Yes

 

 Bronchiectasis

NO

Yes

 

 Rhinosinusitis

NO

Yes

 

 Otitis media

NO

Yes

 

 Situs inversus

NO

NO

 

 Infertility

Yes

Yes

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