Table III.
Dynein axonemal assembly factor 1 mutations in patients with primary ciliary dyskinesia.
| Author, year | Number of cases | DNA change | Location on DNAAF1 | Protein change | (Refs.) |
|---|---|---|---|---|---|
| Loges et al, 2009 | 1 | [c.1349_1350insC]a | Exon 8 | p.Pro451Alafs × 5 | (6) |
| Loges et al, 2009 | 1 | [11 kb del]+[640 kb del]b | 16q24.1/16q23.3–16q24.1 | Loss of protein DNAAF1, HSDL1, et al | (6) |
| Loges et al, 2009 | 1 | [c.811C>T]+[220 kb del]b | Exon 6/16q24.1 | p.Arg271 ×/Loss of | (6) |
| protein DNAAF1, HSDL1, et al | |||||
| Duquesnoy et al, 2009 | 1 | [c.792C>A]+[c.508dupG]b | Exon 6/4 | p.Tyr264 × /p.Glu170Glyfs x 10 | (7) |
| Duquesnoy et al, 2009 | 1 | [c.115dupT]+[c.1300_1322del23bp]b | Exon 1/8 | p.Cys39Leufs × 44/p. Gly434Profsx 4 | (7) |
| Duquesnoy et al, 2009 | 1 | [c.1198_1199insTCGC]+ [c.124+1536_353-2102del5376bp]b | Exon 8/ 2–3 | p.Pro400Leufs × 6/p. Glu42_Lys117del | (7) |
| Duquesnoy et al, 2009 | 2 | [c.524T>G]a | Exon 4 | p.Leu175Arg | (7) |
| Hartill, et al, 2018 | 3 | [c.281delA]+[c.1484delC]b | Exon 3/ 8 | Lys95Asnfs × 14/Pro495Glnfs × 40 | (17) |
| Hartill, et al, 2018 | 1 | [c.1484delC]a | Exon 8 | Pro495Glnfs × 40 | (17) |
| Hartill, et al, 2018 | 1 | [Exon 6-Exon 7 deletion]a | Exon 6–7 | Incomplete protein | (17) |
a
Homozygous mutation
b
heterozygous mutation.