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ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2017 Oct; Vol. 173 (10), pp. 2772-2775. Date of Electronic Publication: 2017 Aug 04. - Publication Year :
- 2017
-
Abstract
- 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.<br /> (© 2017 Wiley Periodicals, Inc.)
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 173
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 28777499
- Full Text :
- https://doi.org/10.1002/ajmg.a.38377