title: The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic.
abstract: A T911C (F304S) substitution in the ALG6 gene involved in congenital disorder of glycosylation type Ic (OMIM 603147) has been described. However, whether the F304S substitution is a common polymorphism or a causal mutation remains unclear. We screened for the T911C substitution in the ALG6 gene in 54 unrelated healthy French individuals. We developed a restriction fragment length polymorphism assay with a mutagenic primer introducing a diagnostic DdeI restriction site. We found 23 heterozygotes (42.6%) and 3 homozygous individuals (5.5%). This result indicates that T911C is a common polymorphism with an allele frequency of 27% in a French population and not a causal mutation of congenital disorder of glycosylation type Ic.
authors.affiliation: Biochimie A, Hôpital Bichat-Claude Bernard, Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Vuillaumier-Barrot
authors.forename: C
authors.initials: C
authors.lastname: Le Bizec
authors.forename: G
authors.initials: G
authors.lastname: Durand
authors.forename: N
authors.initials: N
authors.lastname: Seta
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D018981:Congenital Disorders of Glycosylation / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D005964:Glucosyltransferases / Q000737:chemistry / Q000235:genetics*; D006031:Glycosylation; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008565:Membrane Proteins; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide
chemical_list: D008565:Membrane Proteins; C498467:ALG6 protein, human; D005964:Glucosyltransferases; C119841:dolichyl pyrophosphate Man(9)GlcNAc(2) alpha1,3-glucosyltransferase