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Van Den Ende-Gupta syndrome

Saturday 30 October 2010

Definition: Van Den Ende-Gupta syndrome (VDEGS) is an extremely rare autosomal-recessive disorder characterized by distinctive craniofacial features, which include blepharophimosis, malar and/or maxillary hypoplasia, a narrow and beaked nose, and an everted lower lip. Other features are arachnodactyly, camptodactyly, peculiar skeletal abnormalities, and normal development and intelligence.

Etiology

- germline mutations of SCARF2 in Van Den Ende-Gupta syndrome (VDEGS)

  • SCARF2 contains putative epidermal growth factor-like domains in its extracellular domain, along with a number of positively charged residues in its intracellular domain, indicating that it may be involved in intracellular signaling.
  • SCARF2 phenotypic effects can be associated with defects in the scavenger receptor F family of genes.

References

- Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. Anastasio N, Ben-Omran T, Teebi A, Ha KC, Lalonde E, Ali R, Almureikhi M, Der Kaloustian VM, Liu J, Rosenblatt DS, Majewski J, Jerome-Majewska LA. Am J Hum Genet. 2010 Oct 8;87(4):553-9. PMID: #20887961#