Table 2.
HSVM Parameters in Six Affected Individuals with Identified RSPH1 Mutations
| Family | Individual | Beating Cilia (%) | CBF (Hz)a | Angle (°)a | Distance Traveled (μm/sec)a | Allele 1 | Allele 2 |
|---|---|---|---|---|---|---|---|
| DC129 | DCP781 | 80 | 7 ± 2 | 36 ± 22 | 21.5 ± 19 | c.366−3C>A | c.407_410delAGTA (p.Lys136Metfs∗6) |
| DC337 | DCP1057 | 80 | 9.2 ± 3.3 | 53 ± 25 | 46.4 ± 23 | c.275−2A>C (p.Gly92Alafs∗10) | c.727+5G>A (p.Ala244Valfs∗22) |
| DC455 | DCP729 | 65 | 6.7 ± 1.6 | 76 ± 14 | 57.6 ± 25.6 | c.85G>T (p.Glu29∗) | c.308G>A (p.Gly103Asp) |
| DC645 | DCP1153 | 30 | 6.2 ± 1.6 | 58 ± 11 | 22 ± 3.8 | c.275−2A>C (p.Gly92Alafs∗10) | c.275−2A>C (p.Gly92Alafs∗10) |
| DCP1154 | 80 | 8.2 ± 1.6 | 42 ± 18 | 23.5 ± 10 | c.275−2A>C (p.Gly92Alafs∗10) | c.275−2A>C (p.Gly92Alafs∗10) | |
| DC651 | DCP1064 | 40 | 7.6 ± 2.5 | 64 ± 25 | 43 ± 30 | c.85G>T (p.Glu29∗) | c.366G>A (p.[Arg122Serfs∗22, p.=]) |
| Individuals with RSPH1 mutations (mean ± SD) | 59 ± 21 | 7.5 ± 1.1 | 54.8 ± 14.7 | 35.6 ± 15.4 | - | - | |
| Controls (mean ± SD) | 91 ± 13 | 8.9 ± 2 | 71.6 ± 6.6 | 66.7 ± 14.2 | - | - | |
| Statistical significance (p) | 0.001 | 0.13 | 0.014 | 0.002 | - | - | |
The following abbreviation is used: CBF, ciliary beat frequency.
a
The CBF, angle, and distance traveled were evaluated on beating cilia.