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ALG13‐CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing
Author(s) -
Gadomski Therese E.,
Bolton Melody,
Alfadhel Majid,
Dvorak Chris,
Ogunsakin Olalekan A.,
Nelson Stephen L.,
Morava Eva
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38377
Subject(s) - transferrin , microcephaly , isoelectric focusing , medicine , cognition , endocrinology , gene isoform , biology , pediatrics , neuroscience , genetics , biochemistry , gene , enzyme
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.