关键词： ALG11 CDG GP130 LLO intellectual disability

Mesh ： Adolescent Alleles Biomarkers Child, Preschool Congenital Disorders of Glycosylation / diagnosis genetics Electroencephalography Female Genetic Association Studies Genetic Predisposition to Disease Glycosylation Humans Magnetic Resonance Imaging Male Mannosyltransferases / genetics Mutation Pedigree Phenotype Tomography, X-Ray Computed

来  源：   DOI：10.1002/ajmg.a.61046   PDF(Sci-hub)   PDF(Pubmed)

Abstract：
ALG11-Congenital Disorder of Glycosylation (ALG11-CDG, also known as congenital disorder of glycosylation type Ip) is an inherited inborn error of metabolism due to abnormal protein and lipid glycosylation. We describe two unrelated patients with ALG11-CDG due to novel mutations, review the literature of previously described affected individuals, and further expand the clinical phenotype. Both affected individuals reported here had severe psychomotor disabilities and epilepsy. Their fibroblasts synthesized truncated precursor glycan structures, consistent with ALG11-CDG, while also showing hypoglycosylation of a novel biomarker, GP130. Surprisingly, one patient presented with normal transferrin glycosylation profile, a feature that has not been reported previously in patients with ALG11-CDG. Together, our data expand the clinical and mutational spectrum of ALG11-CDG.
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