Primary ciliary dyskinesia

Definition:

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.

References:

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[13]. Faiqa Imtiaz, et al. Variation in DNAH1 may contribute to primary ciliary dyskinesia. BMC Med Genet. 2015 Mar 17;16:14. [Content Brief]

[14]. G Pennarun, et al. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. Am J Hum Genet. 1999 Dec;65(6):1508-19. [Content Brief]

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[21]. Julia Wallmeier, et al. De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. Am J Hum Genet. 2019 Nov 7;105(5):1030-1039. [Content Brief]

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[23]. Julia Wallmeier, et al. Mutations in TP73 cause impaired mucociliary clearance and lissencephaly. Am J Hum Genet. 2021 Jul 1;108(7):1318-1329. [Content Brief]

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[26]. Lucia Bartoloni, et al. Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proc Natl Acad Sci U S A. 2002 Aug 6;99(16):10282-6. [Content Brief]

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[29]. Mahmoud R Fassad, et al. C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia. Am J Hum Genet. 2018 May 3;102(5):956-972. [Content Brief]

[30]. Mahmoud R Fassad, et al. Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus. Am J Hum Genet. 2018 Dec 6;103(6):984-994. [Content Brief]

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[34]. Masha Mazor, et al. Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. Am J Hum Genet. 2011 May 13;88(5):599-607. [Content Brief]

[35]. Maureen Wirschell, et al. The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. Nat Genet. 2013 Mar;45(3):262-8. [Content Brief]

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[37]. Michael R Knowles, et al. Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. Am J Hum Genet. 2013 Oct 3;93(4):711-20. [Content Brief]

[38]. Mieke Boon, et al. MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia. Nat Commun. 2014 Jul 22;5:4418. [Content Brief]

[39]. Niki Tomas Loges, et al. Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet. 2009 Dec;85(6):883-9. [Content Brief]

[40]. Niki Tomas Loges, et al. DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. Am J Hum Genet. 2008 Nov;83(5):547-58. [Content Brief]

[41]. Raghu R Chivukula, et al. A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance. Nat Med. 2020 Feb;26(2):244-251. [Content Brief]

[42]. Rim Hjeij, et al. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet. 2013 Aug 8;93(2):357-67. [Content Brief]

[43]. Serge Bonnefoy, et al. Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects. Am J Hum Genet. 2018 Nov 1;103(5):727-739. [Content Brief]

[44]. Steven K Brennan, et al. Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia. Int J Mol Sci. 2021 Jul 31;22(15):8272. [Content Brief]

[45]. Tamara Paff, et al. Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. Am J Hum Genet. 2017 Jan 5;100(1):160-168. [Content Brief]

[46]. Victoria H Castleman, et al. Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. Am J Hum Genet. 2009 Feb;84(2):197-209. [Content Brief]

[47]. Ximena M Bustamante-Marin, et al. Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance. Am J Hum Genet. 2019 Feb 7;104(2):229-245. [Content Brief]

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