Table 1.
Frequency of PCD genes with pathogenic variants found in Puerto Rico.
| Allelic Frequency | In Silico Evidence # | |||||
|---|---|---|---|---|---|---|
| PCD Genes | Pathogenic Variants | Puerto Rico | General * | Latino * | SIFT | PolyPhen-2 |
| RSPH4A | c.921+3_6delAAGT (Intronic) | 0.667 | 0.00003204 | 0.0001738 | ^ Aberrant splicing; absent or disrupted protein product. | |
| ZMYND10 | c.85T > C (p.Ser29Pro) | 0.077 | 0.00002682 | 0.0000586 | Deleterious | Probably damaging |
| CCNO | c.875_897del (p.Asp292Alafs*71) | 0.051 | 0.000003991 | 0.00 | ^ C-terminus disruption of the CCNO Protein. Likely to be disease-causative. | |
| DNAH1 | c.10468_10471del (p.Arg3490Glnfs*4) | 0.051 | 0.0000856 | 0.000198 | ^ Created a premature stop signal. Results in absence of disruptive protein. | |
| DNAH9 | c.308dup (p.Leu104Profs*45) | 0.051 | 0.0002849 | 0.0001783 | ^ Created a premature stop signal. Results in absence of disruptive protein. | |
| RSPH4A | c.1103T > G (p.Val368Gly) | 0.026 | 0.000003978 | 0.00 | Deleterious | Probably damaging |
| DNAH11 | c.3133C > T (p.Arg1045*) | 0.026 | 0.00001209 | 0.00 | ^ Created a premature stop signal. Results in absence of disruptive protein. | |
| DNAH5 | c.2431+5G > A (Intronic) | 0.026 | 0.00009564 | 0.00 | ^ Aberrant splicing | |
| DNAI1 | c.370C > T (p.Arg124Cys) | 0.026 | 0.000403 | 0.0003386 | Tolerated | Probably damaging |
* General and Latino allele frequency obtained from gnomAD database [15]. Available online: https://gnomad.broadinstitute.org/ (accessed on 21 March 2022). # In silico evidence reported by Invitae Corporation, San Francisco, CA, USA. SIFT, Sorting Intolerant From Tolerant; PolyPhen-2, Polymorphism Phenotyping v2. ^ Not Reportable.