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

Therese E. Gadomski, Melody Bolton, Majid Alfadhel, Chris Dvorak, Olalekan A. Ogunsakin, Stephen L. Nelson, Eva Morava-Kozicz

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)2772-2775
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume173
Issue number10
DOIs
StatePublished - Oct 1 2017
Externally publishedYes

Keywords

  • galactose
  • glycosylation
  • ICAM-1
  • normal TIEF
  • seizures

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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