2. Academic Validation
  3. Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia

Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia

  • Int J Mol Sci. 2021 Jul 31;22(15):8272. doi: 10.3390/ijms22158272.
Steven K Brennan 1,  Thomas W Ferkol 1,  Stephanie D Davis 2
Affiliations

Affiliations

  • 1 Department of Pediatrics, Division of Allergy and Pulmonary Medicine, Campus Box 8116, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, USA.
  • 2 Department of Pediatrics, University of North Carolina School of Medicine, 101 Manning Drive, Chapel Hill, NC 27514, USA.
PMID: 34361034 DOI: 10.3390/ijms22158272
Abstract

Primary ciliary dyskinesia (PCD) is a rare inherited condition affecting motile cilia and leading to organ laterality defects, recurrent sino-pulmonary infections, bronchiectasis, and severe lung disease. Research over the past twenty years has revealed variability in clinical presentations, ranging from mild to more severe phenotypes. Genotype and phenotype relationships have emerged. The increasing availability of genetic panels for PCD continue to redefine these genotype-phenotype relationships and reveal milder forms of disease that had previously gone unrecognized.

Keywords

genotype-phenotype association; molecular genetics; primary ciliary dyskinesia.

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