Expanded phenotype of primary ciliary dyskinesia related to DRC1 pathogenic variant with dysmorphisms and vascular anomalies

Abstract

We present a case of a female diagnosed with primary ciliary dyskinesia (PCD) type 21 with non-previously reported extrapulmonary symptoms, including facial features and congenital vascular anomalies. Whole genome sequencing in our patient revealed a homozygous pathogenic variant in the DRC1 gene and no other notable structural nor punctual variants. This case demonstrates a unique clinical manifestation of PCD, which is possibly associated with the presence of a homozygous pathogenic DRC1 variant. Therefore, we suggest that analysis of DRC1 be considered with PCD type 21 when such features are present.

Keywords: DRC1; aberrant left subclavian artery; primary ciliary dyskinesia; vascular ring.