[HTML][HTML] Peters plus syndrome is a new congenital disorder of glycosylation and involves defective O-glycosylation of thrombospondin type 1 repeats
Peters Plus syndrome is an autosomal recessive disorder characterized by anterior eye
chamber defects, disproportionate short stature, developmental delay, and cleft lip and/or
palate. It is caused by splice site mutations in what was thought to be a β1, 3-
galactosyltransferase-like gene (B3GALTL). Recently, we and others found this gene to
encode a β1, 3-glucosyltransferase involved in the synthesis of the disaccharide Glc-β1, 3-
Fuc-O-that occurs on thrombospondin type 1 repeats of many biologically important proteins …
chamber defects, disproportionate short stature, developmental delay, and cleft lip and/or
palate. It is caused by splice site mutations in what was thought to be a β1, 3-
galactosyltransferase-like gene (B3GALTL). Recently, we and others found this gene to
encode a β1, 3-glucosyltransferase involved in the synthesis of the disaccharide Glc-β1, 3-
Fuc-O-that occurs on thrombospondin type 1 repeats of many biologically important proteins …