Table I.
Clinical characteristics and diagnostic testing of Amish and Mennonite subjects with PCD and DNAH5 mutant alleles
| Patient | Age | Sex | Clinical manifestations | Laterality | Ultrastructural defect | Nasal NO, nL/min* | DNAH5 mutation |
|---|---|---|---|---|---|---|---|
| Pennsylvania | |||||||
| 1 | 14 y | Female | RS, OM, HL, PC, BR | SS | ODA | 15.6 | 4348C>T/4348C>T |
| 2 | 7 y | Male | NRD, CHD, RS, OM, HL, PC, BR | SA | ODA | 5.7 | 4348C>T/4348C>T |
| 3 | 10 m | Male | OM | SS | ND | 68.0 | 4348C>T/4348C>T |
| 4 | 63 y | Female | RS, PC, BR | SS | ND | 14.3 | 4348C>T/4348C>T |
| 5 | 9 y | Female | NRD, OM, RS, PC | SS | ND | 31.5 | 4348C>T/4348C>T |
| 6 | 6 y | Male | NRD, OM, HL, RS, PC | SS | ND | 40.5 | 4348C>T/4348C>T |
| 7 | 11 y | Male | NRD, OM, HL, RS, PC | SS | ND | 26.5 | 4348C>T/4348C>T |
| 8 | 13 y | Female | NRD, OM, HL, RS, PC | SS | ND | 26.7 | 4348C>T/4348C>T |
| Arkansas | |||||||
| 1 | 13 y | Male | RDS, CHD, OM, HL, RS, PC | SA | ND | 8.9 | 4348C>T/4348C>T |
| 2 | 18 y | Male | RDS, OM, HL, RS, PC | SS | ND | 9.2 | 4348C>T/4348C>T |
| Wisconsin | |||||||
| 1 | 3 m | Male | NRD, RS, OM, PC | SS | ODA | 8.6 | 10815dT/4348C>T |
| 2 | 2 y | Female | NRD, RS, OM, HL, PC | SI | ODA | 8.1 | 10815dT/4348C>T |
BR, bronchiectasis; CHD, congenital heart disease; HL, hearing loss; ND, not done; NRD, neonatal respiratory distress or hypoxemia; ODA, outer dynein arm; OM, chronic or recurrent otitis media; PC, daily productive cough; RS, rhinosinusitis; SA, situs ambiguus; SI, situs inversus totalis; SS, situs solitus.
DNAH5 mutations: exon 27 c.4348C>T (p.Q1450X) and exon 63 c.10815delT (p.P3606HfsX23).
*
Normal nasal NO level, >100 nL/min.