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Review

Primary Ciliary Dyskinesia

Maimoona A Zariwala  1 , Katherine A Despotes  2 , Stephanie D Davis  3
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
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Review

Primary Ciliary Dyskinesia

Maimoona A Zariwala et al.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Briefly describe the clinical characteristics of primary ciliary dyskinesia (PCD);

  2. 2

    Review the genetic causes of PCD;

  3. 3

    Review the differential diagnosis of PCD with a focus on genetic conditions;

  4. 4

    Provide an evaluation strategy to identify the genetic cause of PCD in a proband (when possible);

  5. 5

    Review management of PCD;

  6. 6

    Inform genetic counseling of family members of an individual with PCD.

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References

    1. Amirav I, Wallmeier J, Loges NT, Menchen T, Pennekamp P, Mussaffi H, Abitbul R, Avital A, Bentur L, Dougherty GW, Nael E, Lavie M, Olbrich H, Werner C, Kintner C, Omran H, Israeli PCDCI. Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis. Hum Mutat. 2016;37:396-405. - PubMed
    1. Barbato A, Frischer T, Kuehni CE, Snijders D, Azevedo I, Baktai G, Bartoloni L, Eber E, Escribano A, Haarman E, Hesselmar B, Hogg C, Jorissen M, Lucas J, Nielsen KG, O'Callaghan C, Omran H, Pohunek P, Strippoli MP, Bush A. Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. Eur Respir J. 2009;34:1264-76. - PubMed
    1. Barber AT, Davis SD, Boutros H, Zariwala M, Knowles MR, Leigh MW. Use caution interpreting nasal nitric oxide: Overlap in primary ciliary dyskinesia and primary immunodeficiency. Pediatr Pulmonol. 2021;56:4045-7. - PMC - PubMed
    1. Barber AT, Shapiro AJ, Davis SD, Ferkol TW, Atkinson JJ, Sagel SD, Dell SD, Olivier KN, Milla CE, Rosenfeld M, Li L, Lin FC, Sullivan KM, Capps NA, Zariwala MA, Knowles MR, Leigh MW. Laterality defects in primary ciliary dyskinesia: Relationship to ultrastructural defect or genotype. Ann Am Thorac Soc. 2023;20:397-405. - PMC - PubMed
    1. Becker-Heck A, Zohn IE, Okabe N, Pollock A, Lenhart KB, Sullivan-Brown J, McSheene J, Loges NT, Olbrich H, Haeffner K, Fliegauf M, Horvath J, Reinhardt R, Nielsen KG, Marthin JK, Baktai G, Anderson KV, Geisler R, Niswander L, Omran H, Burdine RD. The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Nat Genet. 2011;43:79–84. - PMC - PubMed