TABLE 1.
Genetic findings and predicted ultrastructure for each individual. Abbreviation: ID, Identification number; Var. class, Variant classification; 4 likely pathogenic, 5 pathogenic.
| ID | Allele 1 | Allele 2 | Predicted ciliary ultrastructure | |||||
|---|---|---|---|---|---|---|---|---|
| Mutation | Protein level | Var. Class | Mutation | Protein level | Var. Class | (Near) normal | Abnormal | |
| 1-15 | ZMYND10(NM_015896.4):c.47T>G | (p.Val16Gly) | 5 | ZMYND10(NM_015896.4):c.47T>G | (p.Val16Gly) | 5 | X | |
| 1-16 | ODAD1(NM_144577.4):c.742G>A | (p.Ala248Thr) | 5 | ODAD1(NM_144577.4):c.742G>A | (p.Ala248Thr) | 5 | X | |
| 1-18 | ZMYND10(NM_015896.4):c.47T>G | (p.Val16Gly) | 5 | ZMYND10(NM_015896.4):c.490dup | (p.Gln164ProfsTer19) | 4 | X | |
| 1-19 | DNAI1(NM_012144.4):c.48+2dup | (p.?) | 5 | DNAI1(NM_012144.4):c.912C>G | (p.Tyr304Ter) | 5 | X | |
| 1-25 | DNAH5(NM_001369.3):c.2710G>T | (p.Glu904Ter) | 5 | DNAH5(NM_001369.3):c.2710G>T | (p.Glu904Ter) | 5 | X | |
| 1-28 | DNAH11(NM_001277115.2):c.4333C>T | (p.Arg1445Ter) | 5 | DNAH11(NM_001277115.2):c.4942C>T | (p.Gln1648Ter) | 4 | X | |
| 1-32 | DNAI1(NM_012144.4):c.48+2dup | (p.?) | 5 | DNAI1(NM_012144.4):c.1569G>A | (p.Lys523 = ) | 4 | X | |
| 1-39 | DNAH11(NM_001277115.2): c.12751_12756del | (p.Val4251_ Lys4252del) | 5 | DNAH11(NM_001277115.2):c.852_854del | (p.Arg285del) | 4 | X | |
| 1-47 | FOXJ1(NM_001454.4):c.868_871dup | (p.Thr291LysfsTer12) | 5 | X | ||||
| 1-49 | DNAAF1(NM_178452.6):c.329dup | (p.Asp110GlufsTer8) | 5 | DNAAF1(NM_178452.6):c.572T>G | (p.Leu191Arg) | 5 | X | |
| 1-52 | CFAP300(NM_032930.3): c.198_200delTTTinsCC | (p.Phe67ProfsTer10) | 5 | CFAP300(NM_032930.3): c.198_200delTTTinsCC | (p.Phe67ProfsTer10) | 5 | X | |
| 1-57 | ZMYND10(NM_015896.4):c.47T>G | (p.Val16Gly) | 5 | ZMYND10(NM_015896.4):c.47T>G | (p.Val16Gly) | 5 | X | |
| 1-74 | HYDIN(NM_001270974.2):c.6140C>G | (p.Ser2047Ter) | 5 | HYDIN(NM_001270974.2):c.6140C>G | (p.Ser2047Ter) | 5 | X | |
| 1-77 | DNAAF6(NM_173494.2):400 kb deletion | (p.?) | 5 | X | ||||
| 1-83 | DNAI1(NM_012144.4):c.48+2dup | (p.?) | 5 | DNAI1(NM_012144.4):c.48+2dup | (p.?) | 5 | X | |
| 1-91 | ODAD2(NM_018076.5):c.2976del | (p.Asp993ThrfsTer14) | 4 | ODAD2(NM_018076.5):c.2976del | (p.Asp993ThrfsTer14) | 4 | X | |
| 1-93 | ODAD1(NM_144577.4):c.226C>T | (p.Gln76Ter) | 4 | ODAD1(NM_144577.4):c.226C>T | (p.Gln76Ter) | 4 | X | |
| 1-96 | DNAH11(NM_001277115.2):c.8719C>T | (p.Pro2907Ser) | 5 | DNAH11(NM_001277115.2):c.8719C>T | (p.Pro2907Ser) | 5 | X | |
| 1-100 | ODAD2(NM_018076.5):c.2528dup | (p.Leu843PhefsTer52) | 5 | ODAD2(NM_018076.5):c.2528dup | (p.Leu843PhefsTer52) | 5 | X | |
| 1-106 | DNAH5(NM_001369.3):c.5563dup | (p.Ile1855AsnfsTer6) | 5 | DNAH5(NM_001369.3):c.5066T>A | (p.Leu1689Ter) | 5 | X | |
| 1-108 | HYDIN(NM_001270974.2):c.6140C>G | (p.Ser2047Ter) | 5 | HYDIN(NM_001270974.2):c.6140C>G | (p.Ser2047Ter) | 5 | X | |
| 1-109 | DNAH5(NM_001369.3):c.10815del | (p.Pro3606HisfsTer23) | 5 | DNAH5(NM_001369.3):c.13486C>T | (p.Arg4496Ter) | 5 | X | |
| 1-113 | CFAP300(NM_032930.3): c.198_200delTTTinsCC | (p.Phe67ProfsTer10) | 5 | CFAP300(NM_032930.3):c.353A>G | (p.Asp118Gly) | 4 | X | |
| 1-115 | DNAH5(NM_001369.3):c.10815del | (p.Pro3606HisfsTer23) | 5 | DNAH5(NM_001369.3):c.10615C>T | (p.Arg3539Cys) | 4 | X | |
| 1-116 | DNAAF1(NM_178452.6):c.871dup | (p.Ala291GlyfsTer6) | 5 | DNAAF1(NM_178452.6):c.871dup | (p.Ala291GlyfsTer6) | 5 | X | |
| 1-121 | RSPH4A(NM_001010892.3):c.1105G>C | (p.Ala369Pro) | 5 | RSPH4A(NM_001010892.3):c.1105G>C | (p.Ala369Pro) | 5 | X | |
| 1-123 | DNAI1(NM_012144.4):c.48+2dup | (p.?) | 5 | DNAI1(NM_012144.4):c.180G>A | (p.?) | 4 | X | |
| 1-128 | DNAH5(NM_001369.3):c.5177T>C | (p.Leu1726Pro) | 5 | DNAH5(NM_001369.3):c.885dup | (p.Lys296GlnfsTer3) | 5 | X | |
| 1-134 | CCDC39(NM_181426.2):c.610–2A>G | (p.?) | 5 | CCDC39(NM_181426.2):c.610–2A>G | (p.?) | 5 | X | |
| 1-135 | ZMYND10(NM_015896.4):c.47T>G | (p.Val16Gly) | 5 | ZMYND10(NM_015896.4):c.47T>G | (p.Val16Gly) | 5 | X | |
| 1-144 | DNAH11(NM_001277115.2):c.5506C>T | (p.Arg1836Ter) | 4 | DNAH11(NM_001277115.2): c.13065_13067del | (p.Leu4356del) | 4 | X | |
| 1-148 | RSPH1(NM_080860.4):c.680dup | (p.Pro228AlafsTer15) | 5 | RSPH1(NM_080860.4):c.680dup | (p.Pro228AlafsTer15) | 5 | X | |
| 1-151 | DNAH5(NM_001369.3):c.10384C>T | (p.Gln3462Ter) | 5 | DNAH5(NM_001369.3): Duplication Exon 54-70 | (p.?) | 5 | X | |
| 1-153 | CCDC40(NM_017950.4):c.248del | (p.Ala83ValfsTer84) | 5 | CCDC40(NM_017950.4):c.248del | (p.Ala83ValfsTer84) | 5 | X | |
| 1-154 | SPAG1(NM_172218.3):c.427–2A>G | (p.?) | 4 | SPAG1(NM_172218.3):c.595 + 2T>G | (p.?) | 4 | X | |
| 1-171 | DNAAF6(NM_173494.2):c.355C>T | (p.Gln119Ter) | 5 | X | ||||
| 1-179 | DNAH5(NM_001369.3):c.12705 + 1G>T | (p.?) | 5 | DNAH5(NM_001369.3):c.10615C>T | (p.Arg3539Cys) | 4 | X | |
| 1-190 | DNAH11(NM_001277115.2): c.12597dup | (p.Pro4200SerfsTer15) | 5 | DNAH11(NM_001277115.2): c.13420C>T | (p.Gln4474Ter) | 4 | X | |
| 1-193 | DNAH5(NM_001369.3):c.12279 + 1G>A | (p.?) | 4 | DNAH5(NM_001369.3):c.5177T>C | (p.Leu1726Pro) | 5 | X | |
| 1-194 | RSPH4A(NM_001010892.3):c.1391G>A | (p.Gly464Glu) | 4 | RSPH4A(NM_001010892.3):c.1391G>A | (p.Gly464Glu) | 4 | X | |
| 1-205 | DNAH9(NM_001372.4):c.5106T>G | (p.Tyr1702Ter) | 4 | DNAH9(NM_001372.4):c.9211_9214dup | (p.Gly3072GlufsTer8) | 5 | X | |
| 1-207 | CCDC40(NM_017950.4):c.940-1G>C | (p.?) | 5 | CCDC40(NM_017950.4):c.940-1G>C | (p.?) | 5 | X | |
| 1-211 | CCDC40(NM_017950.4):c.2440C>T | (p.Arg814Ter) | 5 | CCDC40(NM_017950.4):c.2440C>T | (p.Arg814Ter) | 5 | X | |
| 1-214 | DNAH11(NM_001277115.2): c.11663G>A | (p.Arg3888His) | 4 | DNAH11(NM_001277115.2): c.11663G>A | (p.Arg3888His) | 4 | X | |
| 1-218 | DNAAF4(NM_130810.4):c.583del | (p.Ile195Ter) | 5 | DNAAF4(NM_130810.4):c.583del | (p.Ile195Ter) | 5 | X | |
| 1-220 | DNAH5(NM_001369.3):c.1715T>G | (p.Leu572Trp) | 4 | DNAH5(NM_001369.3):c.5146C>T | (p.Arg1716Trp) | 5 | X | |
| 1-221 | CCNO(NM_021147.5):c.926del | (p.Pro309ArgfsTer18) | 5 | CCNO(NM_021147.5):c.926del | (p.Pro309ArgfsTer18) | 5 | X | |
| 1-226 | DNAAF11(NM_012472.6):c.630del | (p.Trp210CysfsTer12) | 5 | DNAAF11(NM_012472.6):c.630del | (p.Trp210CysfsTer12) | 5 | X | |
| 1-228 | DNAAF4(NM_130810.4):c.583del | (p.Ile195Ter) | 5 | DNAAF4(NM_130810.4):c.808C>T | (p.Arg270Ter) | 5 | X | |
| 1-232 | DNAAF11(NM_012472.6):c.630del | (p.Trp210CysfsTer12) | 5 | DNAAF11(NM_012472.6):c.630del | (p.Trp210CysfsTer12) | 5 | X | |
| 1-233 | ODAD4(NM_001350319.2):c.245del | (p.Lys82ArgfsTer29) | 5 | ODAD4(NM_001350319.2):c.397 + 1G>A | (p.?) | 5 | X | |
| 1-238 | CCDC40(NM_017950.4):c.248del | (p.Ala83ValfsTer84) | 5 | CCDC40(NM_017950.4):c.736_755dup | (p.Ser252ArgfsTer43) | 4 | X | |
| 1-242 | ODAD1(NM_144577.4):c.742G>A | (p.Ala248Thr) | 5 | ODAD1(NM_144577.4):c.742G>A | (p.Ala248Thr) | 5 | X | |
| 1-255 | DNAH5(NM_001369.3):c.2710G>T | (p.Glu904Ter) | 5 | DNAH5(NM_001369.3):c.2710G>T | (p.Glu904Ter) | 5 | X | |
| 1-258 | RSPH4A(NM_001010892.3): c.1963_1966del | (p.Asp655IlefsTer83) | 4 | RSPH4A(NM_001010892.3): c.1963_1966del | (p.Asp655IlefsTer83) | 4 | X | |
| 1-261 | DNAAF1(NM_178452.6):c.1349dup | (p.Pro451AlafsTer6) | 5 | DNAAF1(NM_178452.6):c.1349dup | (p.Pro451AlafsTer6) | 5 | X | |
| 1-265 | SPAG1(NM_172218.3): c.1282_1294del | (p.Ala428ProfsTer17) | 5 | SPAG1(NM_172218.3):c.1282_1294del | (p.Ala428ProfsTer17) | 5 | X | |
| 1-292 | SPEF2(NM_024867.4):c.910C>T | (p.Arg304Ter) | 5 | SPEF2(NM_024867.4):c.2629del | (p.Ile877PhefsTer6) | 4 | X | |