Aliases: CDG1C
Chromosome No: 1
Chromosome Band: 1p31.3
Genetic Category: Syndromic-Rare single gene variant
ASD Reports: 2
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 6
Evidence score: null
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Relevance to Autism
Evaluation of the clinical data from 41 patients with congenital disorder of glycosylation, type Ic, mediated by ALG6 mutations (ALG6-CDG) found that behavioral problems or mood disorders occurred in 14 patients, with most of these 14 patients showing autistic features. Furthermore, five patients with ALG6-CDG were diagnosed with autism (Morava et al., 2016).
Molecular Function
This gene encodes a member of the ALG6/ALG8 glucosyltransferase family that catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorder of glycosylation, type Ic (CDG1C; OMIM 603147), a multisystem disorder resulting in a wide variety of clinical features, including developmental delay, hypotonia, epilepsy, ataxia, and failure to thrive.
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