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Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation‐Ip
Author(s) -
Thiel Christian,
Rind Nina,
Popovici Diana,
Hoffmann Georg F.,
Hanson Kristen,
Conway Robert L.,
Adamski Craig R.,
Butler Elizabeth,
Scanlon Rhonda,
Lambert Marie,
Apeshiotis Neophytos,
Thiels Charlotte,
Matthijs Gert,
Körner Christian
Publication year - 2012
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22019
Subject(s) - biology , glycosylation , identification (biology) , lead (geology) , computational biology , bioinformatics , genetics , ecology , paleontology
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. Hum Mutat 33:485–487, 2012. © 2011 Wiley Periodicals, Inc.