Table 1.
The most likely causal recessive mutations in the fifteen SI subjects.
| Subj | SI group | Sex/ Age | EHI | NH | CHD | Daily wet cough | Type | Gene | Clinvar | rs ID | Start position | ref | alt | MAF | AAC | impact |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SI02 | non-PCD | M/50 | 0.9 | R | 0 | ? | hom | PKD1L1 | SA | SI | rs528302390 | 47870810 | T | TCA | 0.00109 | — | splice donor |
| SI03 | non-PCD | F/26 | −0.8 | L | 0 | yes | unsolved | |||||||||
| SI04 | non-PCD | M/23 | −1 | L | 1 | no | unsolved | |||||||||
| SI05 | non-PCD | M/27 | 0.9 | R | 0 | no | unsolved | |||||||||
| SI07 | non-PCD | F/35 | 0.9 | R | 1 | ? | unsolved | |||||||||
| SI09 | non-PCD | F/36 | 0.7 | L§ | 0 | no | unsolved | |||||||||
| SI12 | non-PCD | F/40 | 0.9 | R | 0 | no | chet | DNAH5 | Kartagener | None | 13900415 | A | C | — | E/* | stop gained |
| chet | DNAH5 | Kartagener | None | 13769691 | G | GC | 0.00002 | A/X | frameshift | |||||||
| SI14 | non-PCD | M/18 | −0.8 | L | 1 | no | chet | CFAP52/WDR16 | SI | rs148905544 | 9489207 | T | A | 0.00066 | H/Q | Missense variant |
| chet | CFAP52/WDR16 | SI | rs374035006 | 9536224 | C | T | 0.00012 | R/* | Stop gained | |||||||
| SI16 | non-PCD | M/21 | −1 | L | 0 | no | hom | CCDC151 | Kartagener | rs765121016 | 11533429 | T | TCTC | 0.00011 | E/− | inframe deletion |
| SI06 | PCD | M/46 | 1 | R | 0 | yes | hom | LRRC6 | Kartagener | rs767624733 | 133687728 | T | C | 0.00017 | — | splice donor |
| SI08 | PCD | F/23 | 0.9 | R | 0 | yes | hom | DNAH11 | PCD | rs373706559 | 21659620 | A | C | 0.00006 | Y/* | stop gained |
| SI11 | PCD | F/32 | 0.9 | R | 0 | yes | chet | DNAAF1 | Kartagener | rs569633512 | 84203963 | C | T | — | — | splice donor |
| chet | DNAAF1 | Kartagener | rs373103805 | 84193302 | G | C | 0.00023 | N/K | missense | |||||||
| SI13 | PCD | M/48 | 0.6 | L§ | 0 | yes | hom | CCDC114 | Kartagener | rs779459076 | 48814907 | CACG | C | 0.00093 | −/R | Inframe insert |
| SI15 | PCD | F/31 | 0.7 | R | 0 | yes | chet | DNAH5 | Kartagener | None | 13786289 | A | T | — | K/* | stop gained |
| chet | DNAH5 | Kartagener | rs397515540 | 13753397 | G | GA | 0.00034 | D/X | frameshift | |||||||
| SI17 | PCD | M/39 | 0.5 | R | 0 | yes | chet | DNAH5 | Kartagener | rs548521732 | 13839638 | C | T | 0.00021 | — | splice acceptor |
| chet | DNAH5 | Kartagener | rs769458738 | 13753597 | T | C | 0.00004 | R/H | missense |
Subjects shown with two mutations have possible compound heterozygous mutations, otherwise they have homozygous mutations. The Genome Reference Consorium (GRC) build 37 decoy version was used as reference sequence. EHI: Edinburgh Handedness Inventory score; NH: natural handedness; CHD: Congenital Heart Disease. Type: type of genetic mutation, i.e., homozygous (hom) or compound heterozygous (chet); MAF: minor allele frequency in population databases, if known; AAC: amino acid change. §Self-identified natural lefthander made to convert to right-handedness.