Journal
MOLECULAR GENETICS AND METABOLISM
Volume 84, Issue 1, Pages 25-31Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2004.09.014
Keywords
N-glycosylation; hALG12; genital hypoplasia; hypogammaglobulinemia; mannosyltransferase
Funding
- NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES [R01DK065615] Funding Source: NIH RePORTER
- NIDDK NIH HHS [R01DK65615] Funding Source: Medline
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In this report we describe the first two US patients with congenital disorder of glycosylation type Ig (CDG-Ig). Both patients presented with symptoms indicating CDG, including developmental delay, hypotonia and failure to thrive, and tested positive for deficient glycosylation of transferrin. Labeling of the patients' lipid-linked oligosaccharides suggested mutations in the hALG12 gene, encoding a mannosyltransferase. Both patients were shown to carry previously unpublished hALG12-mutations. Patient I has one allele with a deletion of G29, resulting in a premature stop codon, and another allele with an 824G > A mutation yielding an S275N amino acid change. Patient 2 carries two heterozygous mutations (688T > G and 931C > T), resulting in two amino acid exchanges, Y230D and R311C. An adenoviral vector expressing wild type hALG12 corrects the abnormal lipid-linked oligosaccharide pattern of the patients' cells. In addition to common CDG symptoms, these patients also presented with low IgG and genital hypoplasia, symptoms previously described in CDG-Ig patients. We therefore conclude that a combination of developmental delay, low IgG, and genital hypoplasia should prompt CDG testing. (C) 2004 Elsevier Inc. All rights reserved.
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