Identification of a novel variant of SCARF2 in a Jordanian family with a van den Ende-Gupta Syndrome and literature review.

Abstract

Introduction Van den Ende-Gupta Syndrome (VDEGS; MIM 600920) is a rare autosomal recessive syndrome caused by homozygous variants in the scavenger receptor class F member 2 (SCARF2) gene (Anastasio et al., 2010; Niederhoffer et al., 2016). SCARF2 gene is mapped to 22q11.2 region, consists of 11 exons and encodes the SCARF2. The function of SCARF2 has not been fully elucidated. It is reported that this protein belongs to the cell surface scavenger receptors family involved in lipid scavenging and other biologic processes, including pathogen clearance, endocytosis, adhesion and antigen presentation. It is further involved in the pathophysiology of several disorders, such as pathogen infections, atherosclerosis, metabolic disorders, neurodegeneration and cancer (Ishii et al., 2002; PrabhuDas et al., 2014; Zani et al., 2015).