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Primary Ciliary Dyskinesia.
Zariwala MA, Knowles MR, Leigh MW. Zariwala MA, et al. 2007 Jan 24 [updated 2019 Dec 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2007 Jan 24 [updated 2019 Dec 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301301 Free Books & Documents. Review.
ODAD1 variants resulting from splice-site mutations retain partial function and cause primary ciliary dyskinesia with outer dynein arm defects.
Zhou N, Liang W, Zhang Y, Quan G, Li T, Huang S, Huo Y, Cui H, Cheng Y. Zhou N, et al. Front Genet. 2023 Oct 31;14:1270278. doi: 10.3389/fgene.2023.1270278. eCollection 2023. Front Genet. 2023. PMID: 38028630 Free PMC article.
To date, 13 likely pathogenic mutations of ODAD1 have been reported. However, the pathogenesis of ODAD1 mutations remains elusive. ...Furthermore, we demonstrated that the truncated proteins resulting from splice-site mutations in ODAD1 could retain partial f …
To date, 13 likely pathogenic mutations of ODAD1 have been reported. However, the pathogenesis of ODAD1 mutations remains elus …
Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype.
Ostrowski LE, Yin W, Smith AJ, Sears PR, Bustamante-Marin XM, Dang H, Hildebrandt F, Daniels LA, Capps NA, Sullivan KM, Leigh MW, Zariwala MA, Knowles MR. Ostrowski LE, et al. Int J Mol Sci. 2022 Feb 3;23(3):1753. doi: 10.3390/ijms23031753. Int J Mol Sci. 2022. PMID: 35163670 Free PMC article.
The disease is genetically and phenotypically heterogeneous, with causative mutations in > 50 genes identified, and clinical phenotypes ranging from mild to severe. Absence of ODAD1 (CCDC114), a component of the outer dynein arm docking complex, results in a failure to …
The disease is genetically and phenotypically heterogeneous, with causative mutations in > 50 genes identified, and clinical phenotypes r …
Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.
Hjeij R, Aprea I, Poeta M, Nöthe-Menchen T, Bracht D, Raidt J, Honecker BI, Dougherty GW, Olbrich H, Schwartz O, Keller U, Nüsse H, Diderich KEM, Vogelberg C, Santamaria F, Omran H. Hjeij R, et al. Genet Med. 2023 May;25(5):100798. doi: 10.1016/j.gim.2023.100798. Epub 2023 Jan 31. Genet Med. 2023. PMID: 36727596
In addition, CLXN was undetectable in ciliary axonemes of individuals with defects in the ODA-docking machinery: ODAD1, ODAD2, ODAD3, and ODAD4. Furthermore, SMED-EFCAB1-deficient planaria displayed ciliary dysmotility. ...
In addition, CLXN was undetectable in ciliary axonemes of individuals with defects in the ODA-docking machinery: ODAD1, ODAD2, ODAD3, …
Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation.
Kos R, Israëls J, van Gogh CDL, Altenburg J, Diepenhorst S, Paff T, Boon EMJ, Micha D, Pals G, Neerincx AH, Maitland-van der Zee AH, Haarman EG; Amsterdam Mucociliary Clearance Disease (AMCD) Research Group. Kos R, et al. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):89-101. doi: 10.1002/ajmg.c.31968. Epub 2022 Mar 27. Am J Med Genet C Semin Med Genet. 2022. PMID: 35343062 Free PMC article.
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.
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, Köhler G, Häffner K, Reyes-Mugica M, Lupski JR, Leigh MW, Rosenfeld M, Morgan LC, Knowles MR, Lo CW, Katsanis N, Omran H. Hjeij R, et al. Am J Hum Genet. 2013 Aug 8;93(2):357-67. doi: 10.1016/j.ajhg.2013.06.009. Epub 2013 Jul 11. Am J Hum Genet. 2013. PMID: 23849778 Free PMC article.
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
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; Genetic Disorders of Mucociliary Clearance Consortium. Knowles MR, et al. Am J Hum Genet. 2013 Jan 10;92(1):99-106. doi: 10.1016/j.ajhg.2012.11.003. Epub 2012 Dec 20. Am J Hum Genet. 2013. PMID: 23261302 Free PMC article.
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.
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. Onoufriadis A, et al. Am J Hum Genet. 2013 Jan 10;92(1):88-98. doi: 10.1016/j.ajhg.2012.11.002. Epub 2012 Dec 20. Am J Hum Genet. 2013. PMID: 23261303 Free PMC article.
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