ALG13 ‐CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing

ALG13‐CDG has been recently discovered as a disorder of severe developmental, intellectual and speech disability, microcephaly, visual abnormalities, seizures, hepatomegaly, coagulation abnormalities, and abnormal serumtransferrin isoelectric focusing in serum. A male with seizures, delayed motor, and speech development, but normal cognition carried a hemizygous, predicted pathogenic ALG13 variant (p.E463G). N‐glycosylation studies in plasma were normal. ICAM‐1 expression was decreased in patient fibroblasts, supporting the variant's pathogenicity. Adding D‐galactose to the patient's fibroblast culture increased ICAM‐1 expression in vitro, offering a potential treatment option in ALG13‐CDG. The present report is a new example for an N‐glycosylation disorder, that may present with normal transferrin isoform analysis, and also demonstrates, that CDG type I patients can have normal cognitive development.
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research