Expanded phenotype of primary ciliary dyskinesia related to DRC1 pathogenic variant with dysmorphisms and vascular anomalies. Issue 3 (1st December 2021)

• Record Type: Journal Article
• Authors: LeBlanc, Samuel; Allain, Eric P.; Girouard, Gabriel; Mallet, Marcel; Amor, Mouna Ben
• Is Part Of: American journal of medical genetics. Volume 188:Issue 3(2022)
• Page Start: 965
• Page End: 969
• Publication Date: 2021-12-01
• Subjects: aberrant left subclavian artery -- DRC1 -- primary ciliary dyskinesia -- vascular ring; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.62586
• Languages: English
• ISSNs: 1552-4825

Abstract

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.