Document Detail

Congenital disorder of glycosylation Ic in patients of Indian origin.
MedLine Citation:
PMID:  12855228     Owner:  NLM     Status:  MEDLINE    
Congenital disorder of glycosylation type Ic (CDG-Ic) is caused by mutations in ALG6, encoding an alpha 1,3-glucosyltransferase. The most frequent mutation found in this gene (C998T resulting in an A333V substitution) has until now been found only in patients of European origin. Here we describe the first occurrence of this CDG-Ic mutation in patients of Indian origin. Of three Indian patients described in this study, patient 1 was homozygous and patient 2 heterozygous for the A333V mutation. In patient 2 we also found a new mutation, IVS3+2_3insT, just 3bp away from the previously described IVS3+5G>A substitution; both mutations resulted in exon 3 skipping. We screened a panel of >350 genomic DNA samples from an ethnically diverse American population to determine the frequency of the A333V mutation. None of the samples carried this mutation, indicating the frequency of patients carrying this homozygous mutation should be <1 in 5x10(5). The discovery of the common CDG-Ic mutation A333V in an Indian population raises questions as to its ethnic origin.
J W Newell; N-S Seo; G M Enns; M McCraken; J F Mantovani; H H Freeze
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  79     ISSN:  1096-7192     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  2003 Jul 
Date Detail:
Created Date:  2003-07-11     Completed Date:  2004-03-09     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  221-8     Citation Subset:  IM    
The Burnham Institute, Glycobiology and Carbohydrate Chemistry Program, 10901 N. Torrey Pines Road, La Jolla, CA 92037, USA.
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MeSH Terms
Amino Acid Substitution
Carbohydrate-Deficient Glycoprotein Syndrome / diagnosis,  enzymology,  genetics*
Cell Culture Techniques
DNA Mutational Analysis
Fibroblasts / enzymology,  metabolism
Genetic Variation
Glucosyltransferases / genetics,  metabolism
Indians, North American / genetics*
Membrane Proteins / genetics,  metabolism
Polymorphism, Genetic
RNA, Messenger / isolation & purification
Grant Support
R01-55615//PHS HHS
Reg. No./Substance:
0/Membrane Proteins; 0/RNA, Messenger; EC 2.4.1.-/ALG6 protein, human; EC 2.4.1.-/Glucosyltransferases; EC 2.4.1.-/dolichyl pyrophosphate Man(9)GlcNAc(2) alpha1,3-glucosyltransferase

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