Table 2.
Patients with probable primary ciliary dyskinesia with nondiagnostic biopsies and positive molecular genetic results
| Family | Patient | Ethnicity | Sex | Age at Dx | Consanguineous | Situs Status | Neo RDE | Otitis Media | Bxsis | Sinusitis | Ciliary EM | nNO | Gene | Base Changes | Predicted Effect | # Genes Tested |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Homozygous |
||||||||||||||||
| 122 | >11 | Pakistani | F | 1.5 mo | Y | I | + | + | + | + | Not done | >23.5 | DNAH5 | c.7463T>C | p.Leu2488Pro | >12 |
| 123 | >47 | Sri Lankan Tamil | M | 53 yr | Y | I | − | + | + | + | Inadequate | >3.1 | DNAI1 | c.1188delC | p.Tyr397Thrfs*5 | >2 |
| 124 | >52 | Jordanian | F | 1 mo | Y | I | − | + | + | + | Inadequate | >7.2 | DNAH11 | c.4348C>T (28) | p.Arg1450* | >6 |
| Compound heterozygous |
||||||||||||||||
| 125 | >10 | White | F | 6 yr | N | I | + | + | − | + | Inadequate | >5.6 | DNAH5 | c.3037_3040delAGCG | p.Val1014Leufs*20 | >1 |
| c.10815delT (39) | p.Pro3606Hisfs*23 | |||||||||||||||
| 126 | >8 | White | M | 0 mo | N | I | + | + | − | + | Inconclusive | >9.7 | DNAH5 | c.13458dupT (39) | p.Asn4487* | >12 |
| c.11308A>G | p.Ser3770Gly | |||||||||||||||
| 128 | >41 | Pakistani | F | 2 yr | N | I | + | + | − | + | Normal | >22 | DNAH11 | c.2569C>T (28) | p.Arg857* | >6 |
| c.4471_4473delCTAinsAT | p.Leu1491Ilefs*11 | |||||||||||||||
| 129 | >42 | Pakistani | M | 10 yr | Y | A | + | + | − | + | Normal | >7.3 | DNAH11 | c.12365T>G | p.Ile4122Ser | >12 |
| c.12888T>A | p.Cys4296* | |||||||||||||||
| 129 | >43 | Pakistani | F | 3 yr | Y | I | − | − | − | − | Normal | >5.1 | DNAH11 | c.12365T>G | p.Ile4122Ser | >12 |
| c.12888T>A | p.Cys4296* | |||||||||||||||
| Heterozygous |
||||||||||||||||
| 130 | >40 | White | M | 5 yr | N | S | + | + | + | + | Normal | >9.8 | DNAH11 | c.8719C>T (43) | p.Arg2907* | >12 |
Definition of abbreviations: A = situs ambiguous; Bxsis = bronchiectasis; EM = electron microscopy; F = female; I = situs inversus; inadequate = inadequate ciliated cells to analyze; inconclusive = adequate sample, inconclusive transmission electron microscopy; M = male; N = no; ND = not done; Neo RDE = neonatal respiratory distress; nNo = nasal nitric oxide in nl/min; S = situs solitus; Y = yes.
Molecular genetic analysis was conducted on the following genes: DNAH5, DNAI1, CCDC39, CCDC40, DNAI2, DNAH11, RSPH9, RSPH4A, DNAAF1, DNAAF2, TXNDC3, DNAL1. Documented mutations are indicated in boldface.