| H00564 | |
| H number | H00564 |
| Name | Primary ciliary dyskinesia |
| Description | Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder with recurrent oto-sinopulmonary infections, bronchiectasis, and infertility owing to impaired motile ciliary function. Alterations in the left-right organization of the internal organ positioning, which is caused by dysfunctional nodal cilia in early developmental stage, occur in approximately 50% of PCD patients and this combination is referred as Kartagener syndrome. |
| Category | Respiratory system disease |
| Network | nt06509(H00564) DNA replication |
| Gene | (CILD1) DNAI1 [HSA:27019] [KO:K10409] (CILD2) DNAAF3 [HSA:352909] [KO:K19752] (CILD3) DNAH5 [HSA:1767] [KO:K10408] (CILD5) HYDIN [HSA:54768] [KO:K17570] (CILD6) NME8 [HSA:51314] [KO:K19868] (CILD7) DNAH11 [HSA:8701] [KO:K10408] (CILD9) DNAI2 [HSA:64446] [KO:K11143] (CILD10) DNAAF2 [HSA:55172] [KO:K19751] (CILD11) RSPH4A [HSA:345895] [KO:K19756] (CILD12) RSPH9 [HSA:221421] [KO:K19757] (CILD13) DNAAF1 [HSA:123872] [KO:K19750] (CILD14) CCDC39 [HSA:339829] [KO:K23729] (CILD15) CCDC40 [HSA:55036] [KO:K23730] (CILD16) DNAL1 [HSA:83544] [KO:K10411] (CILD17) CCDC103 [HSA:388389] [KO:K23731] (CILD18) DNAAF5 [HSA:54919] [KO:K19759] (CILD19) DNAAF11 [HSA:23639] [KO:K19753] (CILD20) ODAD1 [HSA:93233] [KO:K23732] (CILD21) DRC1 [HSA:92749] [KO:K19754] (CILD22) ZMYND10 [HSA:51364] [KO:K24030] (CILD23) ODAD2 [HSA:55130] [KO:K24125] (CILD24) RSPH1 [HSA:89765] [KO:K19755] (CILD25) DNAAF4 [HSA:161582] [KO:K19758] (CILD26) CFAP298 [HSA:56683] [KO:K24229] (CILD27) CCDC65 [HSA:85478] [KO:K23728] (CILD28) SPAG1 [HSA:6674] [KO:K19870] (CILD29) CCNO [HSA:10309] [KO:K10861] (CILD30) ODAD3 [HSA:115948] [KO:K23733] (CILD32) RSPH3 [HSA:83861] [KO:K23965] (CILD33) GAS8 [HSA:2622] [KO:K19942] (CILD34) DNAJB13 [HSA:374407] [KO:K09519] (CILD35) ODAD4 [HSA:83538] [KO:K24254] (CILD36) DNAAF6 [HSA:139212] [KO:K24253] (CILD37) DNAH1 [HSA:25981] [KO:K10408] (CILD38) CFAP300 [HSA:85016] [KO:K24230] (CILD39) LRRC56 [HSA:115399] [KO:K25425] (CILD40) DNAH9 [HSA:1770] [KO:K10408] (CILD41) GAS2L2 [HSA:246176] [KO:K24627] (CILD42) MCIDAS [HSA:345643] [KO:K26119] (CILD43) FOXJ1 [HSA:2302] [KO:K09402] (CILD44) NEK10 [HSA:152110] [KO:K20879] (CILD45) TTC12 [HSA:54970] [KO:K24652] (CILD46) STK36 [HSA:27148] [KO:K06228] (CILD47) TP73 [HSA:7161] [KO:K10148] (CILD48) NME5 [HSA:8382] [KO:K20790] (CILD49) CFAP74 [HSA:85452] [KO:K25607] (CILD50) DNAH7 [HSA:56171] [KO:K10408] (CILD51) BRWD1 [HSA:54014] [KO:K11798] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LA75.Y ICD-10: J98.0 MeSH: D007619 OMIM: 244400 606763 608644 608647 610852 611884 612444 612518 612649 612650 613193 613807 613808 614017 614679 614874 614935 615067 615294 615444 615451 615481 615482 615500 615504 615505 615872 616037 616481 616726 617091 617092 300991 617577 618063 618254 618300 618449 618695 618699 618781 618801 619436 619466 620032 620197 620356 620438 |
| Reference | PMID:21898032 AUTHORS Bergmann C TITLE Educational paper: ciliopathies. JOURNAL Eur J Pediatr 171:1285-300 (2012) DOI:10.1007/s00431-011-1553-z PMID:19606528 AUTHORS Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA TITLE Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. JOURNAL Genet Med 11:473-87 (2009) DOI:10.1097/GIM.0b013e3181a53562 PMID:21926394 AUTHORS Zariwala MA, Omran H, Ferkol TW TITLE The emerging genetics of primary ciliary dyskinesia. JOURNAL Proc Am Thorac Soc 8:430-3 (2011) DOI:10.1513/pats.201103-023SD PMID:17059358 AUTHORS Zariwala MA, Knowles MR, Omran H TITLE Genetic defects in ciliary structure and function. JOURNAL Annu Rev Physiol 69:423-50 (2007) DOI:10.1146/annurev.physiol.69.040705.141301 PMID:34361034 AUTHORS Brennan SK, Ferkol TW, Davis SD TITLE Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia. JOURNAL Int J Mol Sci 22:8272 (2021) DOI:10.3390/ijms22158272 PMID:10577904 (CILD1) AUTHORS Pennarun G, Escudier E, Chapelin C, Bridoux AM, Cacheux V, Roger G, Clement A, Goossens M, Amselem S, Duriez B TITLE Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. JOURNAL Am J Hum Genet 65:1508-19 (1999) DOI:10.1086/302683 PMID:22387996 (CILD2) AUTHORS Mitchison HM, Schmidts M, Loges NT, Freshour J, Dritsoula A, Hirst RA, O'Callaghan C, Blau H, Al Dabbagh M, Olbrich H, Beales PL, Yagi T, Mussaffi H, Chung EM, Omran H, Mitchell DR TITLE Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. JOURNAL Nat Genet 44:381-9, S1-2 (2012) DOI:10.1038/ng.1106 PMID:11788826 (CILD3) AUTHORS Olbrich H, Haffner K, Kispert A, Volkel A, Volz A, Sasmaz G, Reinhardt R, Hennig S, Lehrach H, Konietzko N, Zariwala M, Noone PG, Knowles M, Mitchison HM, Meeks M, Chung EM, Hildebrandt F, Sudbrak R, Omran H TITLE Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. JOURNAL Nat Genet 30:143-4 (2002) DOI:10.1038/ng817 PMID:23022101 (CILD5) AUTHORS Olbrich H, Schmidts M, Werner C, Onoufriadis A, Loges NT, Raidt J, Banki NF, Shoemark A, Burgoyne T, Al Turki S, Hurles ME, Kohler G, Schroeder J, Nurnberg G, Nurnberg P, Chung EM, Reinhardt R, Marthin JK, Nielsen KG, Mitchison HM, Omran H TITLE Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. JOURNAL Am J Hum Genet 91:672-84 (2012) DOI:10.1016/j.ajhg.2012.08.016 PMID:17360648 (CILD6) AUTHORS Duriez B, Duquesnoy P, Escudier E, Bridoux AM, Escalier D, Rayet I, Marcos E, Vojtek AM, Bercher JF, Amselem S TITLE A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. JOURNAL Proc Natl Acad Sci U S A 104:3336-41 (2007) DOI:10.1073/pnas.0611405104 PMID:12142464 (CILD7) AUTHORS Bartoloni L, Blouin JL, Pan Y, Gehrig C, Maiti AK, Scamuffa N, Rossier C, Jorissen M, Armengot M, Meeks M, Mitchison HM, Chung EM, Delozier-Blanchet CD, Craigen WJ, Antonarakis SE TITLE Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. JOURNAL Proc Natl Acad Sci U S A 99:10282-6 (2002) DOI:10.1073/pnas.152337699 PMID:18950741 (CILD9) AUTHORS Loges NT, Olbrich H, Fenske L, Mussaffi H, Horvath J, Fliegauf M, Kuhl H, Baktai G, Peterffy E, Chodhari R, Chung EM, Rutman A, O'Callaghan C, Blau H, Tiszlavicz L, Voelkel K, Witt M, Zietkiewicz E, Neesen J, Reinhardt R, Mitchison HM, Omran H TITLE DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. JOURNAL Am J Hum Genet 83:547-58 (2008) DOI:10.1016/j.ajhg.2008.10.001 PMID:19052621 (CILD10) AUTHORS Omran H, Kobayashi D, Olbrich H, Tsukahara T, Loges NT, Hagiwara H, Zhang Q, Leblond G, O'Toole E, Hara C, Mizuno H, Kawano H, Fliegauf M, Yagi T, Koshida S, Miyawaki A, Zentgraf H, Seithe H, Reinhardt R, Watanabe Y, Kamiya R, Mitchell DR, Takeda H TITLE Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. JOURNAL Nature 456:611-6 (2008) DOI:10.1038/nature07471 PMID:19200523 (CILD11 CILD12) AUTHORS Castleman VH, Romio L, Chodhari R, Hirst RA, de Castro SC, Parker KA, Ybot-Gonzalez P, Emes RD, Wilson SW, Wallis C, Johnson CA, Herrera RJ, Rutman A, Dixon M, Shoemark A, Bush A, Hogg C, Gardiner RM, Reish O, Greene ND, O'Callaghan C, Purton S, Chung EM, Mitchison HM TITLE Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. JOURNAL Am J Hum Genet 84:197-209 (2009) DOI:10.1016/j.ajhg.2009.01.011 PMID:19944400 (CILD13) AUTHORS Loges NT, Olbrich H, Becker-Heck A, Haffner K, Heer A, Reinhard C, Schmidts M, Kispert A, Zariwala MA, Leigh MW, Knowles MR, Zentgraf H, Seithe H, Nurnberg G, Nurnberg P, Reinhardt R, Omran H TITLE Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. JOURNAL Am J Hum Genet 85:883-9 (2009) DOI:10.1016/j.ajhg.2009.10.018 PMID:23255504 (CILD14 CILD15) AUTHORS Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O'Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD, Chung EM, Shoemark A, Knowles MR, Omran H, Mitchison HM TITLE Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. JOURNAL Hum Mutat 34:462-72 (2013) DOI:10.1002/humu.22261 PMID:21496787 (CILD16) AUTHORS Mazor M, Alkrinawi S, Chalifa-Caspi V, Manor E, Sheffield VC, Aviram M, Parvari R TITLE Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. JOURNAL Am J Hum Genet 88:599-607 (2011) DOI:10.1016/j.ajhg.2011.03.018 PMID:22581229 (CILD17) AUTHORS Panizzi JR, Becker-Heck A, Castleman VH, Al-Mutairi DA, Liu Y, Loges NT, Pathak N, Austin-Tse C, Sheridan E, Schmidts M, Olbrich H, Werner C, Haffner K, Hellman N, Chodhari R, Gupta A, Kramer-Zucker A, Olale F, Burdine RD, Schier AF, O'Callaghan C, Chung EM, Reinhardt R, Mitchison HM, King SM, Omran H, Drummond IA TITLE CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. JOURNAL Nat Genet 44:714-9 (2012) DOI:10.1038/ng.2277 PMID:23040496 (CILD18) AUTHORS Horani A, Druley TE, Zariwala MA, Patel AC, Levinson BT, Van Arendonk LG, Thornton KC, Giacalone JC, Albee AJ, Wilson KS, Turner EH, Nickerson DA, Shendure J, Bayly PV, Leigh MW, Knowles MR, Brody SL, Dutcher SK, Ferkol TW TITLE Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. JOURNAL Am J Hum Genet 91:685-93 (2012) DOI:10.1016/j.ajhg.2012.08.022 PMID:23122589 (CILD19) AUTHORS Kott E, Duquesnoy P, Copin B, Legendre M, Dastot-Le Moal F, Montantin G, Jeanson L, Tamalet A, Papon JF, Siffroi JP, Rives N, Mitchell V, de Blic J, Coste A, Clement A, Escalier D, Toure A, Escudier E, Amselem S TITLE Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. JOURNAL Am J Hum Genet 91:958-64 (2012) DOI:10.1016/j.ajhg.2012.10.003 PMID:23261302 (CILD20) AUTHORS Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, Hazucha MJ, Yin W, Berg JS, Davis SD, Dell SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla CE, Olivier KN, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Shendure J, Zariwala MA TITLE Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. JOURNAL Am J Hum Genet 92:99-106 (2013) DOI:10.1016/j.ajhg.2012.11.003 PMID:23354437 (CILD21) AUTHORS Wirschell M, Olbrich H, Werner C, Tritschler D, Bower R, Sale WS, Loges NT, Pennekamp P, Lindberg S, Stenram U, Carlen B, Horak E, Kohler G, Nurnberg P, Nurnberg G, Porter ME, Omran H TITLE The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. JOURNAL Nat Genet 45:262-8 (2013) DOI:10.1038/ng.2533 PMID:23891471 (CILD22) AUTHORS Moore DJ, Onoufriadis A, Shoemark A, Simpson MA, zur Lage PI, de Castro SC, Bartoloni L, Gallone G, Petridi S, Woollard WJ, Antony D, Schmidts M, Didonna T, Makrythanasis P, Bevillard J, Mongan NP, Djakow J, Pals G, Lucas JS, Marthin JK, Nielsen KG, Santoni F, Guipponi M, Hogg C, Antonarakis SE, Emes RD, Chung EM, Greene ND, Blouin JL, Jarman AP, Mitchison HM TITLE Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia. JOURNAL Am J Hum Genet 93:346-56 (2013) DOI:10.1016/j.ajhg.2013.07.009 PMID:23849778 (CILD23) AUTHORS Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu X, Li Y, Damerla R, Dougherty GW, Abouhamed M, Olbrich H, Loges NT, Pennekamp P, Davis EE, Carvalho CM, Pehlivan D, Werner C, Raidt J, Kohler G, Haffner K, Reyes-Mugica M, Lupski JR, Leigh MW, Rosenfeld M, Morgan LC, Knowles MR, Lo CW, Katsanis N, Omran H TITLE ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. JOURNAL Am J Hum Genet 93:357-67 (2013) DOI:10.1016/j.ajhg.2013.06.009 PMID:23993197 (CILD24) AUTHORS Kott E, Legendre M, Copin B, Papon JF, Dastot-Le Moal F, Montantin G, Duquesnoy P, Piterboth W, Amram D, Bassinet L, Beucher J, Beydon N, Deneuville E, Houdouin V, Journel H, Just J, Nathan N, Tamalet A, Collot N, Jeanson L, Le Gouez M, Vallette B, Vojtek AM, Epaud R, Coste A, Clement A, Housset B, Louis B, Escudier E, Amselem S TITLE Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. JOURNAL Am J Hum Genet 93:561-70 (2013) DOI:10.1016/j.ajhg.2013.07.013 PMID:23872636 (CILD25) AUTHORS Tarkar A, Loges NT, Slagle CE, Francis R, Dougherty GW, Tamayo JV, Shook B, Cantino M, Schwartz D, Jahnke C, Olbrich H, Werner C, Raidt J, Pennekamp P, Abouhamed M, Hjeij R, Kohler G, Griese M, Li Y, Lemke K, Klena N, Liu X, Gabriel G, Tobita K, Jaspers M, Morgan LC, Shapiro AJ, Letteboer SJ, Mans DA, Carson JL, Leigh MW, Wolf WE, Chen S, Lucas JS, Onoufriadis A, Plagnol V, Schmidts M, Boldt K, Roepman R, Zariwala MA, Lo CW, Mitchison HM, Knowles MR, Burdine RD, Loturco JJ, Omran H TITLE DYX1C1 is required for axonemal dynein assembly and ciliary motility. JOURNAL Nat Genet 45:995-1003 (2013) DOI:10.1038/ng.2707 PMID:24094744 (CILD26 CILD27) AUTHORS Austin-Tse C, Halbritter J, Zariwala MA, Gilberti RM, Gee HY, Hellman N, Pathak N, Liu Y, Panizzi JR, Patel-King RS, Tritschler D, Bower R, O'Toole E, Porath JD, Hurd TW, Chaki M, Diaz KA, Kohl S, Lovric S, Hwang DY, Braun DA, Schueler M, Airik R, Otto EA, Leigh MW, Noone PG, Carson JL, Davis SD, Pittman JE, Ferkol TW, Atkinson JJ, Olivier KN, Sagel SD, Dell SD, Rosenfeld M, Milla CE, Loges NT, Omran H, Porter ME, King SM, Knowles MR, Drummond IA, Hildebrandt F TITLE Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. JOURNAL Am J Hum Genet 93:672-86 (2013) DOI:10.1016/j.ajhg.2013.08.015 PMID:24055112 (CILD28) AUTHORS Knowles MR, Ostrowski LE, Loges NT, Hurd T, Leigh MW, Huang L, Wolf WE, Carson JL, Hazucha MJ, Yin W, Davis SD, Dell SD, Ferkol TW, Sagel SD, Olivier KN, Jahnke C, Olbrich H, Werner C, Raidt J, Wallmeier J, Pennekamp P, Dougherty GW, Hjeij R, Gee HY, Otto EA, Halbritter J, Chaki M, Diaz KA, Braun DA, Porath JD, Schueler M, Baktai G, Griese M, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Omran H, Zariwala MA TITLE Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. JOURNAL Am J Hum Genet 93:711-20 (2013) DOI:10.1016/j.ajhg.2013.07.025 PMID:24747639 (CILD29) AUTHORS Wallmeier J, Al-Mutairi DA, Chen CT, Loges NT, Pennekamp P, Menchen T, Ma L, Shamseldin HE, Olbrich H, Dougherty GW, Werner C, Alsabah BH, Kohler G, Jaspers M, Boon M, Griese M, Schmitt-Grohe S, Zimmermann T, Koerner-Rettberg C, Horak E, Kintner C, Alkuraya FS, Omran H TITLE Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. JOURNAL Nat Genet 46:646-51 (2014) DOI:10.1038/ng.2961 PMID:24067530 (CILD30) AUTHORS Jerber J, Baas D, Soulavie F, Chhin B, Cortier E, Vesque C, Thomas J, Durand B TITLE The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals. JOURNAL Hum Mol Genet 23:563-77 (2014) DOI:10.1093/hmg/ddt445 PMID:26073779 (CILD32) AUTHORS Jeanson L, Copin B, Papon JF, Dastot-Le Moal F, Duquesnoy P, Montantin G, Cadranel J, Corvol H, Coste A, Desir J, Souayah A, Kott E, Collot N, Tissier S, Louis B, Tamalet A, de Blic J, Clement A, Escudier E, Amselem S, Legendre M TITLE RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. JOURNAL Am J Hum Genet 97:153-62 (2015) DOI:10.1016/j.ajhg.2015.05.004 PMID:26387594 (CILD33) AUTHORS Olbrich H, Cremers C, Loges NT, Werner C, Nielsen KG, Marthin JK, Philipsen M, Wallmeier J, Pennekamp P, Menchen T, Edelbusch C, Dougherty GW, Schwartz O, Thiele H, Altmuller J, Rommelmann F, Omran H TITLE Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex. JOURNAL Am J Hum Genet 97:546-54 (2015) DOI:10.1016/j.ajhg.2015.08.012 PMID:27486783 (CILD34) AUTHORS El Khouri E, Thomas L, Jeanson L, Bequignon E, Vallette B, Duquesnoy P, Montantin G, Copin B, Dastot-Le Moal F, Blanchon S, Papon JF, Lores P, Yuan L, Collot N, Tissier S, Faucon C, Gacon G, Patrat C, Wolf JP, Dulioust E, Crestani B, Escudier E, Coste A, Legendre M, Toure A, Amselem S TITLE Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility. JOURNAL Am J Hum Genet 99:489-500 (2016) DOI:10.1016/j.ajhg.2016.06.022 PMID:27486780 (CILD35) AUTHORS Wallmeier J, Shiratori H, Dougherty GW, Edelbusch C, Hjeij R, Loges NT, Menchen T, Olbrich H, Pennekamp P, Raidt J, Werner C, Minegishi K, Shinohara K, Asai Y, Takaoka K, Lee C, Griese M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Wallingford JB, Hamada H, Omran H TITLE TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization. JOURNAL Am J Hum Genet 99:460-9 (2016) DOI:10.1016/j.ajhg.2016.06.014 PMID:28041644 (CILD36) AUTHORS Paff T, Loges NT, Aprea I, Wu K, Bakey Z, Haarman EG, Daniels JM, Sistermans EA, Bogunovic N, Dougherty GW, Hoben IM, Grosse-Onnebrink J, Matter A, Olbrich H, Werner C, Pals G, Schmidts M, Omran H, Micha D TITLE Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. JOURNAL Am J Hum Genet 100:160-168 (2017) DOI:10.1016/j.ajhg.2016.11.019 PMID:25927852 (CILD37) AUTHORS Imtiaz F, Allam R, Ramzan K, Al-Sayed M TITLE Variation in DNAH1 may contribute to primary ciliary dyskinesia. JOURNAL BMC Med Genet 16:14 (2015) DOI:10.1186/s12881-015-0162-5 PMID:29727692 (CILD38) AUTHORS Fassad MR, Shoemark A, le Borgne P, Koll F, Patel M, Dixon M, Hayward J, Richardson C, Frost E, Jenkins L, Cullup T, Chung EMK, Lemullois M, Aubusson-Fleury A, Hogg C, Mitchell DR, Tassin AM, Mitchison HM TITLE C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia. JOURNAL Am J Hum Genet 102:956-972 (2018) DOI:10.1016/j.ajhg.2018.03.024 PMID:30388400 (CILD39) AUTHORS Bonnefoy S, Watson CM, Kernohan KD, Lemos M, Hutchinson S, Poulter JA, Crinnion LA, Berry I, Simmonds J, Vasudevan P, O'Callaghan C, Hirst RA, Rutman A, Huang L, Hartley T, Grynspan D, Moya E, Li C, Carr IM, Bonthron DT, Leroux M, Boycott KM, Bastin P, Sheridan EG TITLE Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects. JOURNAL Am J Hum Genet 103:727-739 (2018) DOI:10.1016/j.ajhg.2018.10.003 PMID:30471717 (CILD40) AUTHORS Fassad MR, Shoemark A, Legendre M, Hirst RA, Koll F, le Borgne P, Louis B, Daudvohra F, Patel MP, Thomas L, Dixon M, Burgoyne T, Hayes J, Nicholson AG, Cullup T, Jenkins L, Carr SB, Aurora P, Lemullois M, Aubusson-Fleury A, Papon JF, O'Callaghan C, Amselem S, Hogg C, Escudier E, Tassin AM, Mitchison HM TITLE Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus. JOURNAL Am J Hum Genet 103:984-994 (2018) DOI:10.1016/j.ajhg.2018.10.016 PMID:30665704 (CILD41) AUTHORS Bustamante-Marin XM, Yin WN, Sears PR, Werner ME, Brotslaw EJ, Mitchell BJ, Jania CM, Zeman KL, Rogers TD, Herring LE, Refabert L, Thomas L, Amselem S, Escudier E, Legendre M, Grubb BR, Knowles MR, Zariwala MA, Ostrowski LE TITLE Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance. JOURNAL Am J Hum Genet 104:229-245 (2019) DOI:10.1016/j.ajhg.2018.12.009 PMID:25048963 (CILD42) AUTHORS Boon M, Wallmeier J, Ma L, Loges NT, Jaspers M, Olbrich H, Dougherty GW, Raidt J, Werner C, Amirav I, Hevroni A, Abitbul R, Avital A, Soferman R, Wessels M, O'Callaghan C, Chung EM, Rutman A, Hirst RA, Moya E, Mitchison HM, Van Daele S, De Boeck K, Jorissen M, Kintner C, Cuppens H, Omran H TITLE MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia. JOURNAL Nat Commun 5:4418 (2014) DOI:10.1038/ncomms5418 PMID:31630787 (CILD43) AUTHORS Wallmeier J, Frank D, Shoemark A, Nothe-Menchen T, Cindric S, Olbrich H, Loges NT, Aprea I, Dougherty GW, Pennekamp P, Kaiser T, Mitchison HM, Hogg C, Carr SB, Zariwala MA, Ferkol T, Leigh MW, Davis SD, Atkinson J, Dutcher SK, Knowles MR, Thiele H, Altmuller J, Krenz H, Woste M, Brentrup A, Ahrens F, Vogelberg C, Morris-Rosendahl DJ, Omran H TITLE De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. JOURNAL Am J Hum Genet 105:1030-1039 (2019) DOI:10.1016/j.ajhg.2019.09.022 PMID:31959991 (CILD44) AUTHORS Chivukula RR, Montoro DT, Leung HM, Yang J, Shamseldin HE, Taylor MS, Dougherty GW, Zariwala MA, Carson J, Daniels MLA, Sears PR, Black KE, Hariri LP, Almogarri I, Frenkel EM, Vinarsky V, Omran H, Knowles MR, Tearney GJ, Alkuraya FS, Sabatini DM TITLE A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance. JOURNAL Nat Med 26:244-251 (2020) DOI:10.1038/s41591-019-0730-x PMID:31978331 (CILD45) AUTHORS Thomas L, Bouhouche K, Whitfield M, Thouvenin G, Coste A, Louis B, Szymanski C, Bequignon E, Papon JF, Castelli M, Lemullois M, Dhalluin X, Drouin-Garraud V, Montantin G, Tissier S, Duquesnoy P, Copin B, Dastot F, Couvet S, Barbotin AL, Faucon C, Honore I, Maitre B, Beydon N, Tamalet A, Rives N, Koll F, Escudier E, Tassin AM, Toure A, Mitchell V, Amselem S, Legendre M TITLE TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella. JOURNAL Am J Hum Genet 106:153-169 (2020) DOI:10.1016/j.ajhg.2019.12.010 PMID:28543983 (CILD46) AUTHORS Edelbusch C, Cindric S, Dougherty GW, Loges NT, Olbrich H, Rivlin J, Wallmeier J, Pennekamp P, Amirav I, Omran H TITLE Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect. JOURNAL Hum Mutat 38:964-969 (2017) DOI:10.1002/humu.23261 PMID:34077761 (CILD47) AUTHORS Wallmeier J, Bracht D, Alsaif HS, Dougherty GW, Olbrich H, Cindric S, Dzietko M, Heyer C, Teig N, Thiels C, Faqeih E, Al-Hashim A, Khan S, Mogarri I, Almannai M, Al Otaibi W, Alkuraya FS, Koerner-Rettberg C, Omran H TITLE Mutations in TP73 cause impaired mucociliary clearance and lissencephaly. JOURNAL Am J Hum Genet 108:1318-1329 (2021) DOI:10.1016/j.ajhg.2021.05.002 PMID:32185794 (CILD48) AUTHORS Cho EH, Huh HJ, Jeong I, Lee NY, Koh WJ, Park HC, Ki CS TITLE A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects. JOURNAL Clin Genet 98:64-68 (2020) DOI:10.1111/cge.13742 PMID:32555313 (CILD49) AUTHORS Sha Y, Wei X, Ding L, Ji Z, Mei L, Huang X, Su Z, Wang W, Zhang X, Lin S TITLE Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype. JOURNAL J Hum Genet 65:961-969 (2020) DOI:10.1038/s10038-020-0790-2 PMID:34476482 (CILD50) AUTHORS Wei X, Sha Y, Wei Z, Zhu X, He F, Zhang X, Liu W, Wang Y, Lu Z TITLE Bi-allelic mutations in DNAH7 cause asthenozoospermia by impairing the integrality of axoneme structure. JOURNAL Acta Biochim Biophys Sin (Shanghai) 53:1300-1309 (2021) DOI:10.1093/abbs/gmab113 PMID:33389130 (CILD51) AUTHORS Guo T, Tu CF, Yang DH, Ding SZ, Lei C, Wang RC, Liu L, Kang X, Shen XQ, Yang YF, Tan ZP, Tan YQ, Luo H TITLE Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia. JOURNAL Hum Genet 140:761-773 (2021) DOI:10.1007/s00439-020-02241-4 |