Expanding the phenotypic spectrum and clinical severity associated with WLS gene.

WLS (Wnt ligand secretion mediator or Wntless) orchestrates the secretion of all Wnt proteins, a family of evolutionary conserved proteins, involved in Wnt signaling pathway that has many essential biological functions including the regulation of development, cell proliferation, migration and apoptosis. Biallelic variants in WLS have recently been described in 10 patients with pleiotropic multiple congenital anomalies (MCA) known as Zaki syndrome. We identified a likely disease-causing variant in WLS (c.

Abnormal profiles of cathepsin C secreted in urine of Papillon Lefevre syndrome patients.

Background: Papillon Lefevre syndrome (PLS) is an autosomal recessive disorder that results from a mutated gene that encodes a lysosomal peptidase known as cathepsin C (CTSC). The clinical presentation of PLS involves mainly palmoplantar keratosis and periodontitis with a variable degree of severity.

Subjects: and methods: Our study included ten patients with a broad spectrum of palmoplantar keratosis and periodontitis severity.

Oral rehabilitation of a case with regional odontodysplasia using a regenerative approach-A case report and a review of literature.

Aim: to investigate for the first time whether the regenerative approach can be used to rehabilitate a case with regional odontodysplasia (ROD). ROD is a rare, localized developmental anomaly of the dental tissues. Moreover, we review the various treatment protocols for ROD and compare them to the suggested regenerative protocol.