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Hum Mutat. 2012 Mar;33(3):485-7. doi: 10.1002/humu.22019. Epub 2012 Jan 31.

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

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1
Department Kinderheilkunde I, Center for Child and Adolescent Medicine, Im Neuenheimer Feld 153, Heidelberg, Germany. christian.thiel@med.uni-heidelberg.de

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.

PMID:
22213132
DOI:
10.1002/humu.22019
[Indexed for MEDLINE]
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