Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report

Abstract

BackgroundVan Den Ende-Gupta Syndrome (VDEGS) is an extremely rare autosomal recessive syndrome with less than 20 reported families (approximately 40 patients) in the worldwide literature.Case presentationWe have assessed one consanguineous Saudi family with typical features of VDEGS. Two siblings were affected with almost identical features; including blepharophimosis, arachnodactyly, flexion contractures of the elbows, camptodactyly, slender ribs, hooked lateral clavicular ends, and bilateral radial head dislocations. Both patients had several unusual features; including joint laxity, flat feet, recurrent patellar dislocations, and bilateral short distal ulnae. Full sequencing of SCARF2 revealed a homozygous mutation c.773G > A (p. Cys258Tyr) in both affected children. The parents (both with no abnormalities) were heterozygous for the same mutation.ConclusionJoint laxity, recurrent patellar dislocations, and short distal ulnae should be included as part of the clinical spectrum of VDEGS.

Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome

“…ings in individuals with VDEGS in this report are similar to those published byAl-Qattan et al (2018) (Figure8(a-c) and see supplementary tables). However, by separating published cases into "positive SCARF2 mutation," "untested" and "negative," the proportions changed slightly, and fewer constant features (>90% of cases) were identified.Constant features shared by the "positive SCARF2 mutation" and "untested" groups included blepharophimosis, everted lower lip, and arachnodactyly.…”

Insights into the ligand binding specificity of SREC‐II (scavenger receptor expressed by endothelial cells)

“…Despite the fact that cell surface SREC‐II does not interact with known extracellular class F scavenger ligands such as AcLDL and complement C1q, its physiological importance may be inferred from several studies reporting the association between SCARF2 gene mutations and an extremely rare disease called van den Ende–Gupta syndrome (VDEGS) [ 26 , 27 , 28 ]. VDEGS is inherited in an autosomal recessive manner and is characterized by distinctive facial dysmorphism and skeletal abnormalities with additional infrequent features including joint laxity and recurrent patellar dislocation [ 29 ]. How mutations in SCARF2 gene lead to VDEGS is unknown, but the likely mechanism involves loss of a function potentially important for the proper development of different organs.…”

Two novel variants in SCARF2 gene underlie van den Ende‐Gupta syndrome

“…Speech delay is a finding seen in less than 40% of patients with -Qattan et al, 2018;Anastasio et al, 2010;Bedeschi et al, 2010;Migliavacca et al, 2014;Niederhoffer et al, 2016;Patel et al, 2014).…”

“…Patients with VDEGS have pathogenic variants of the SCARF2 gene on chromosome 22q11.21. Pathogenic variants in SCARF2 , a member of the scavenger receptor type F family involved in LDL scavenging, have recently been identified in 12 individuals with a clinical diagnosis of VDEGS (Al‐Qattan et al, 2018; Anastasio et al, 2010; Bedeschi et al, 2010; Migliavacca et al, 2014; Niederhoffer et al, 2016; Patel et al, 2014).…”

“…The prevalence of VDEGS is not known; however, until today, at least 33 patients in 22 families have been described in the literature worldwide (Al-Qattan et al, 2018;Ali et al, 2010;Anastasio et al, 2010;Bedeschi et al, 2010;Carr et al, 2007;Guerra et al, 2005;Gupta et al, 1995;Leal & Silva, 2009;Michele et al,2014;Patel et al, 2014;Phadke et al, 1998;Schweitzer et al, 2003). The phenotype of VDEGS and the causative homozygous or compound heterozygous pathogenic variants in the SCARF2 gene (MIM*613619) on chromosome 22q11.21 have recently been identified (Anastasio et al, 2010).…”