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Phenotype–genotype associations in primary ciliary dyskinesia: where do we stand?

The study by Shoemark et al. [1], published in this issue of the European Respiratory Journal, is the first large-scale multinational study investigating genotype–phenotype correlations in primary ciliary dyskinesia (PCD), a genetically heterogeneous rare disease. The study confirmed genotype–phenotype relationships reported by previous smaller studies and identified new relationships, bringing the importance of defining distinct PCD phenotypes into the spotlight. Defining distinct PCD clinical phenotypes and their associations to genotypes in large collaborative clinical and research networks could have important implications for clinical management and subsequently patients’ quality of life https://bit.ly/2ZQItzR