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CDG‐Id in two siblings with partially different phenotypes
Author(s) -
Kranz Christian,
Sun Liangwu,
Eklund Erik A.,
Krasnewich Donna,
Casey Janet R.,
Freeze Hudson H.
Publication year - 2007
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.31796
Subject(s) - failure to thrive , hypotonia , microcephaly , mutation , missense mutation , compound heterozygosity , global developmental delay , phenotype , genetics , biology , medicine , pediatrics , gene
We present two sibs with congenital disorder of glycosylation (CDG) type Id. Each shows severe global delay, failure to thrive, seizures, microcephaly, axial hypotonia, and disaccharidase deficiency. One sib has more severe digestive issues, while the other is more neurologically impaired. Each is compound heterozygous for a novel point mutation and an already known mutation in the ALG3 gene that leads to the synthesis of a severely truncated oligosaccharide precursor for N‐glycans. The defect is corrected by introduction of a normal ALG3 cDNA. CDG should be ruled out in all patients with severe seizures and failure to thrive. © 2007 Wiley‐Liss, Inc.