期刊
HUMAN MUTATION
卷 22, 期 5, 页码 1-5出版社
WILEY
DOI: 10.1002/humu.9195
关键词
congenital disorder of glycosylation; CDG-Ic; ALG6; SNP; N-linked oligosaccharide
资金
- NIDDK [RO155615]
- March of Dimes Foundation
- CDG Family Network Foundation
- Cure Autism Now
Congenital Disorder of Glycosylation (CDG) type Ic is caused by mutations in ALG6. This gene encodes an alpha 1,3 glucosyltransferase used for synthesis of the lipid linked oligosaccharide (LLO) precursor of the protein N-glycosylation pathway. CDG-Ic patients have moderate to severe psychomotor retardation, seizures, hypotonia, strabismus, and feeding difficulties. We previously identified a typical patient with a heterozygous point mutation, c.391T>C (p. Tyr131His) in ALG6. Using complementation analysis of ALG6-deficient yeast, we show that this alteration is as severe as the most common disease-causing mutation, c998C>T (p. Ala333Val), which occurs in over half of all known CDG-Ic patients. The frequency of c.391T>C (p. Tyr131His) in the US population, is 0.0214, suggesting that homozygotes would occur at a rate of similar to 1:2,200. We identified one patient with typical CDG-Ic symptoms and a homozygous p. Tyr131His alteration in ALG6. However, in contrast to most CDG patients, her LLO and plasma transferrin glycosylation appeared normal. Thus, it is unclear whether c.391T>C causes CDG-Ic or contributes to the symptoms. Genotyping additional patients with CDG-like symptoms will be required to resolve this issue. (c) 2003 Wiley-Liss, Inc.
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