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Am J Hum Genet. 2004 Mar;74(3):545-51. Epub 2004 Feb 17.

Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.

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  • 1Klinik und Poliklinik für Kinderheilkunde, Muenster, Germany.

Abstract

This study describes the discovery of a new inherited disorder of glycosylation named "CDG-Ik." CDG-Ik (congenital disorder of glycoslyation type Ik) is based on a defect of human mannosyltransferase I (MT-I [MIM 605907]), an enzyme necessary for the elongation of dolichol-linked chitobiose during N-glycan biosynthesis. Mutations in semiconserved regions in the corresponding gene, HMT-1 (yeast homologue, Alg1), in two patients caused drastically reduced enzyme activity, leading to a severe disease with death in early infancy. One patient had a homozygous point mutation (c.773C-->T, S258L), whereas the other patient was compound heterozygous for the mutations c.773C-->T and c.1025A-->C (E342P). Glycosylation and growth of Alg1-deficient PRY56 yeast cells, showing a temperature-sensitive phenotype, could be restored by the human wild-type allele, whereas only slight restoration was observed after transformation with the patients' alleles.

PMID:
14973782
[PubMed - indexed for MEDLINE]
PMCID:
PMC1182267
Free PMC Article

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