Impaired Wnt/Planar Cell Polarity Signaling in Yellow Nail Syndrome | Annals of Internal Medicine
Background: Yellow nail syndrome (YNS) is a rare disorder characterized by a triad of yellow dystrophic nails, lymphedema, and chronic lung disease. Most patients present in adulthood, with only a few congenital or familial cases described. The cause of YNS remains largely unknown, although defects in lymphatic vessel development are suggested to play a significant role. Objective: To elucidate the genetic mechanisms underlying YNS. Design: Analysis of genetic sequencing data and gene and protein expression studies. Setting: A tertiary care academic medical center. Patients: 6 patients with congenital YNS (cYNS) and 5 with sporadic YNS (sYNS). Measurements: Exome and genome sequencing were used to detect disease-causing variants, complemented by RNA analyses for intronic variants. Protein and gene expressions were studied by immunofluorescence staining and real-time reverse transcriptase quantitative polymerase chain reaction analyses. Results: Biallelic variants in CELSR1 (n = 5) or l
