Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.

Abstract

Congenital disorders of glycosylation (CDG) comprise a clinically and biochemically heterogeneous group of monogenetic-inherited, multisystemic diseases that affect the biosynthesis of N- and/or O-glycans linked to glycoconjugates. Recently, we identified the first patient with a defect in the cytosolic-orientated GDP-mannose:Man(3-4) GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase (ALG11), who presented an accumulation of shortened dolichol-linked oligosaccharides leading to CDG-Ip (ALG11-CDG). Here we describe an improved metabolic labeling method that allowed the identification of three new CDG-Ip cases that were missed so far in routine diagnostics. Although all CDG-Ip patients carry different mutations in the ALG11 gene, they share a variety of clinical syndromes like an unremarkable prenatal period followed by developmental delay, psychomotor, and mental retardation, strabismus convergens and seizures occurring in the first year of life.

• Authors: Christian Thiel, Nina Rind, Diana Popovici, Georg F Hoffmann, Kristen Hanson, Robert L Conway, Craig R Adamski, Elizabeth Butler, Rhonda Scanlon, Marie Lambert, Neophytos Apeshiotis, Charlotte Thiels, Gert Matthijs, Christian Körner
• Journal: Human mutation (Hum Mutat) Vol. 33 Issue 3 Pg. 485-7 (Mar 2012) ISSN: 1098-1004 [Electronic] United States
• PMID: 22213132 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2011 Wiley Periodicals, Inc.

Chemical References

• Dolichols
• Oligosaccharides
• ALG11 protein, human
• Mannosyltransferases

Topics

• Child
• Child, Preschool
• Congenital Disorders of Glycosylation (enzymology, genetics)
• Dolichols (chemistry)
• Female
• Glycosylation
• Humans
• Male
• Mannosyltransferases (genetics)
• Oligosaccharides (chemistry, metabolism)