Table 2.
CFAP43 (WDR96), CFAP44 (WDR52), and DNAH1 variants identified by WES for all the analyzed subjects (n = 78)
| Gene | Variant coordinates | Transcript | cDNA variation | Amino-acid variation | Patients | Nationality | Hom./Het. |
|---|---|---|---|---|---|---|---|
| CFAP43 | Chr10:105,912,486 | ENST00000357060 | c.3541−2A>C | p.Ser1181Lysfs*4 | P43-1, P43-2 | Tunisia | Homozygous |
| CFAP43 | Chr10:105,956,662 | ENST00000357060 | c.1240_1241delGT | p.Val414LeufsTer46 | P43-3, P43-4 | Afghanistan, Iran | Homozygous |
| CFAP43 | Chr10:105,928,535 | ENST00000357060 | c.2658G>A | p.Trp886Ter | P43-5 | Algeria | Homozygous |
| CFAP43 | Chr10:105,928,513 | ENST00000357060 | c.2680C>T | p.Arg894Ter | P43-6 | Algeria | Homozygous |
| CFAP43 | Chr10:105,905,296 | ENST00000357060 | c.3882delA | p.Glu1294AspfsTer47 | P43-7 | Tunisia | Homozygous |
| CFAP43 | Chr10:105,921,781 | ENST00000357060 | c.3352C>T | p.Arg1118Ter | P43-8 | Tunisia | Homozygous |
| CFAP43 | Chr10:105,953,765 | ENST00000357060 | c.1302dupT | p.Leu435SerfsTer26 | P43-9 | France | Heterozygous |
| CFAP43 | Chr10:105,963,485 | ENST00000357060 | c.1040T>C | p.Val347Ala | P43-9 | France | Heterozygous |
| CFAP43 | Chr10:105,944,769 | ENST00000357060 | c.2141+5G>A | p.Lys714Val*11 | P43-10 | Turkey | Homozygous |
| CFAP44 | Chr3:113,114,596 | ENST00000393845 | c.1890+1G>A | p.Pro631Ile*22 | P44-1 | Tunisia | Homozygous |
| CFAP44 | Chr3:113,063,450 | ENST00000393845 | c.3175C>T | p.Arg1059Ter | P44-2 | Tunisia | Homozygous |
| CFAP44 | Chr3:113,082,107_11,3082,108 | ENST00000393845 | c.2818dupG | p.Glu940GlyfsTer19 | P44-3 | Morocco | Homozygous |
| CFAP44 | Chr3:113,119,479 | ENST00000393845 | c.1387G>T | p.Glu463Ter | P44-4, P44-5 | Algeria | Homozygous |
| CFAP44 | Chr3:113,023,990 | ENST00000393845 | c.4767delT | p.Ile1589MetfsTer6 | P44-6 | Algeria | Homozygous |
| DNAH1 | Chr3:52,414,073 | ENST00000420323 | c.7531delC | p.Gln2511SerfsTer27 | PDNA-1 | Tunisia | Homozygous |
| DNAH1 | Chr3:52,382,924 | ENST00000420323 | c.2127dupC | p.Ile710HisfsTer4 | PDNA-2 | Tunisia | Homozygous |
| DNAH1 | Chr3:52,395,227 | ENST00000420323 | c.4744_4752delCCAGCTGGC | p.Pro1582_Gly1584del | PDNA-3 | Tunisia | Homozygous |
| DNAH1 | Chr3:52,394,055 | ENST00000420323 | c.4531G>A | p.Val1511Met | PDNA-4 | Tunisia | Heterozygous |
| DNAH1 | Chr3:52,394,397 | ENST00000420323 | c.4642C>G | p.Leu1548Val | PDNA-4 | Iran | Heterozygous |
| DNAH1 | Chr3:52,409,423 | ENST00000420323 | c.7153T>A | p.Trp2385Arg | PDNA-5 | Iran | Heterozygous |
| DNAH1 | Chr3:52,423,486 | ENST00000420323 | c.9505C>G | p.Arg3169Gly | PDNA-5 | France | Heterozygous |
cDNA, complementary DNA; CFAP cilia and flagella associated protein; WES, whole-exome sequencing