TY - JOUR
T1 - ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing
AU - Gadomski, Therese E.
AU - Bolton, Melody
AU - Alfadhel, Majid
AU - Dvorak, Chris
AU - Ogunsakin, Olalekan A.
AU - Nelson, Stephen L.
AU - Morava, Eva
N1 - Publisher Copyright:
© 2017 Wiley Periodicals, Inc.
PY - 2017/10
Y1 - 2017/10
N2 - 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.
AB - 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.
KW - ICAM-1
KW - galactose
KW - glycosylation
KW - normal TIEF
KW - seizures
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U2 - 10.1002/ajmg.a.38377
DO - 10.1002/ajmg.a.38377
M3 - Article
C2 - 28777499
AN - SCOPUS:85028382181
SN - 1552-4825
VL - 173
SP - 2772
EP - 2775
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 10
ER -