Table 1. Patient data and observational data.
| ID | Relationship to patient |
Best Clinical Diagnosis |
PCD Gene | Type of Biallelic Mutations |
Expected TEM Diagnosis of Dynein Arms |
Raw TEM Imagesa |
Per-Axoneme Averagesb |
Single All-axonemes Averagec |
|||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Obs. 1 |
Obs. 2 |
Obs. 1 |
Obs. 2 |
Obs. 1 |
Obs. 2 |
||||||||||||
| IDA | ODA | IDA | ODA | IDA | ODA | IDA | ODA | IDA | ODA | IDA | ODA | ||||||
|
| |||||||||||||||||
| 1 | parent | Unaff. | Normal | ||||||||||||||
| 2 | patient | PCD | ODA, IDA def. | ____ | Def. | Def. | Def. | ____ | Def. | ____ | Def. | ____ | Def. | Def. | Def. | ||
| 3 | parent | Unaff. | Normal | ||||||||||||||
| 4 | unaffected sib | Unaff. | Normal | ||||||||||||||
| 5 | parent | Unaff. | Normal | Def. | |||||||||||||
| 6 | parent | Unaff. | Normal | Def. | |||||||||||||
| 7 | patient | PCD | DNAAF1 (LRRC50)* [31] |
nonsense/deletion | ODA, IDA def. | Def. | Def. | Def. | Def. | Def. | Def. | Def. | Def. | Def. | Def. | Def. | Def. |
| 8 | unaffected sib | Unaff. | Normal | ||||||||||||||
| 9 | unaffected sib | Unaff. | Normal | Def. | Def. | ||||||||||||
| 10 | patient | PCD& | IDA def. | Def. | Def. | Def. | Def. | Def. | Def. | Def. | |||||||
| 11 | patient | PCD | DNAH11* [34] | nonsense/nonsense | Normal | ||||||||||||
| 12 | patient | PCD | CCDC40* [32] | nonsense/frameshift | IDA def. | Def. | Def. | Def. | Def. | Def. | Def. | ||||||
| 13 | patient | PCD | RSPH4A* [33] | homozygous splice-site | Normal | ||||||||||||
| 14 | patient | PCD | DNAH5* [29,30] | homozygous nonsense | ODA def. | Def. | Def. | Def. | Def. | Def. | Def. | ||||||
| 15 | patient | PCD | CCDC40* [32] | homozygous frameshift | IDA def. | Def. | Def. | Def. | Def. | Def. | Def. | ||||||
| 16 | patient | PCD | IDA def. | ____ | Def. | Def. | Def. | Def. | Def. | ||||||||
| 17 | patient | PCD | DNAH5 [29,30] | Normal | Def. | Def. | |||||||||||
| 18 | patient | PCD | frameshift/splice-site | ODA def. | ____ | Def. | Def. | Def. | Def. | Def. | Def. | ||||||
| 19 | patient | PCD | ODA def. | ____ | Def. | Def. | Def. | Def. | Def. | ||||||||
| 20 | patient | PCD | IDA def. | Def. | Def. | Def. | Def. | Def. | Def. | ||||||||
| 21 | patient | PCD | Normal | ||||||||||||||
| 22 | patient | PCD | IDA def. | Def. | Def. | Def. | Def. | Def. | Def. | ||||||||
| 23 | patient | PCD | CCDC40* [32] | homozygous frameshift | IDA def. | Def. | Def. | Def. | Def. | Def. | Def. | ||||||
| 24 | patient | PCD | IDA def. | Def. | Def. | Def. | Def. | Def. | Def. | ||||||||
| 25 | patient patient | PCD | RSPH4A* [33] | frameshift/splice-site | Normal | ||||||||||||
| 26 | patient | PCD | RSPH4A* [33] | homozygous splice-site | Normal | ||||||||||||
Def. = Defective or absent.
&
Same patient as number 16.
‘____’ = error cf. expected
a
Errors that would affect diagnosis were found in 6 of 26 patients (52 diagnoses, 12%) (3 F(+), 3 F(−)).
b
Errors that would affect diagnosis were found in 1 of 26 patients (52 diagnoses, 2%) (F(+)).
c
Errors that would affect diagnosis were found in 2 of 26 patients (52 diagnoses, 4%) (F(+)).
*
Genetic data included in publication referenced