Таблица 15. Наиболее частые патогенные варианты у пациентов с ПЦД из различных этнических групп

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<1> Согласно ресурсу, Mutalyzer name checker. Доступно по ссылке: https://mutalyzer.nl/normalizer

<2> Ferkol TW, Puffenberger EG, Lie H, et al. Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. J Pediatr. 2013;163(2):383-387. doi:10.1016/j.jpeds.2013.01.061

<3> Austin-Tse, C., Halbritter, J., Zariwala, M. A., Gilberti, R. M., Gee, H. Y., Hellman, N., Pathak, N., Liu, Y., Panizzi, J. R., Patel-King, R. S., Tritschler, D., Bower, R., and 31 others. Zebrafish ciliopathy screen plus human mutational analysis identifies C21orf59 and CCDC65 defects as causing primary ciliary dyskinesia. Am. J. Hum. Genet. 93: 672 - 686, 2013.

<4> Fedick AM, Jalas C, Treff NR, Knowles MR, Zariwala MA. Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. Mol Genet Genomic Med. 2015 Mar;3(2):137-42. doi: 10.1002/mgg3.124. Epub 2014 Dec 6. PMID: 25802884; PMCID: PMC4367086.

<5> Hijikata M, Morimoto K, Zariwala MA, Nykamp K, Inaba A, Guo TC, Yamada H, Truty R, Sasaki Y, Ohta K, Kudoh S, Leigh MW, Knowles MR, Keicho N. Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients. Mol Genet Genomic Med. 2019 Aug;7(8):e838. doi: 10.1002/mgg3.838. Epub 2019 Jul 4. PMID: 31270959; PMCID: PMC6687623.

<6> Mazor M, Alkrinawi S, Chalifa-Caspi V, et al. Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. Am J Hum Genet. 2011;88(5):599-607. doi:10.1016/j.ajhg.2011.03.018

<7> Castleman, V. H., Romio, L., Chodhari, R., Hirst, R. A., de Castro, S. C. P., Parker, K. A., Ybot-Gonzalez, P., Emes, R. D., Wilson, S. W., Wallis, C., Johnson, C. A., Herrera, R. J., and 12 others. Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. Am. J. Hum. Genet. 84: 197 - 209, 2009.

<8> Onoufriadis A, Paff T, Antony D, Shoemark A, Micha D, Kuyt B, Schmidts M, Petridi S, Dankert-Roelse JE, Haarman EG, Daniels JM, Emes RD, Wilson R, Hogg C, Scambler PJ, Chung EM; UK10K, Pals G, Mitchison HM. Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. Am J Hum Genet. 2013 Jan 10;92(1):88-98. doi: 10.1016/j.ajhg.2012.11.002. Epub 2012 Dec 20. PMID: 23261303; PMCID: PMC3542455.

<9> Olbrich, H., Schmidts, M., Werner, C., Onoufriadis, A., Loges, N. T., Raidt, J., Banki, N. F., Shoemark, A., Burgoyne, T., Al Turki, S., Hurles, M. E., UK10K Consortium, and 10 others. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am. J. Hum. Genet. 91: 672 - 684, 2012.

<10> Casey, J. P., McGettigan, P. A., Healy, F., Hogg, C., Reynolds, A., Kennedy, B. N., Ennis, S., Slattery, D., Lynch, S. A. Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. Europ. J. Hum. Genet. 23: 210 - 217, 2015.

<11> Zariwala, M. A., Gee, H. Y., Kurkowiak, M., Al-Mutairi, D. A., Leigh, M. W., Hurd, T. W., Hjeij, R., Dell, S. D., Chaki, M., Dougherty, G. W., Adan, M., Spear, P. C., and 46 others. ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. Am. J. Hum. Genet. 93: 336 - 345, 2013.

<12> Panizzi, J. R., Becker-Heck, A., Castleman, V. H., Al-Mutairi, D. A., Liu, Y., Loges, N. T., Pathak, N., Austin-Tse, C., Sheridan, E., Schmidts, M., Olbrich, H., Werner, C. {and 15 others}: CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. Nature Genet. 44: 714 - 719, 2012.

<13> Shoemark A, Moya E, Hirst RA, Patel MP, Robson EA, Hayward J, Scully J, Fassad MR, Lamb W, Schmidts M, Dixon M, Patel-King RS, Rogers AV, Rutman A, Jackson CL, Goggin P, Rubbo B, Ollosson S, Carr S, Walker W, Adler B, Loebinger MR, Wilson R, Bush A, Williams H, Boustred C, Jenkins L, Sheridan E, Chung EMK, Watson CM, Cullup T, Lucas JS, Kenia P, O'Callaghan C, King SM, Hogg C, Mitchison HM. High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. Thorax. 2018 Feb;73(2):157-166. doi: 10.1136/thoraxjnl-2017-209999. Epub 2017 Aug 8. PMID: 28790179; PMCID: PMC5771957.

<14> Daniels, M. L. A., Leigh, M. W., Davis, S. D., Armstrong, M. C., Carson, J. L., Hazucha, M., Dell, S. D., Eriksson, M., Collins, F. S., Knowles, M. R., Zariwala, M. A. Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. Hum. Mutat. 34: 1352 - 1356, 2013.

<15> Zietkiewicz E, Bukowy-Bieryllo Z, Rabiasz A, Daca-Roszak P, Wojda A, Voelkel K, Rutkiewicz E, Pogorzelski A, Rasteiro M, Witt M. CFAP300: Mutations in Slavic Patients with Primary Ciliary Dyskinesia and a Role in Ciliary Dynein Arms Trafficking. Am J Respir Cell Mol Biol. 2019 Oct;61(4):440-449. doi: 10.1165/rcmb.2018-0260OC. PMID: 30916986.