A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review.

ABSTRACT:

Background

The congenital disorder of glycosylation associated with ALG1 (ALG1-CDG) is a rare autosomal recessive disease. Due to the deficiency of β1,4 mannosyltransferase caused by pathogenic variants in ALG1 gene, the assembly and processing of glycans in the protein glycosylation pathway are impaired, resulting in a broad clinical spectrum with multi-organ involvement. To raise awareness of clinicians for its manifestations and genotype, we here reported a new patient with a novel variant in ALG1 gene and reviewed the literature to study the genotype-phenotype correlation.

Method

Clinical characteristics were collected, and clinical exome sequencing was used to identify the causative variants. MutationTaster, PyMol, and FoldX were used to predict the pathogenicity, chang

SUBMITTER: Xue Y 

PROVIDER: S-EPMC10422073 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature