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CDG-Id in two siblings with partially different phenotypes

Kranz, Christian ; Sun, Liangwu ; Eklund, Erik A LU ; Krasnewich, Donna ; Casey, Janet R and Freeze, Hudson H (2007) In American Journal of Medical Genetics. Part A 143A(13). p.1414-1420
Abstract

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. (c) 2007 Wiley-Liss, Inc.

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author
; ; ; ; and
publishing date
type
Contribution to journal
publication status
published
keywords
Blindness/diagnosis, Child, Congenital Disorders of Glycosylation/complications, DNA Mutational Analysis, DNA, Complementary/genetics, Diagnosis, Differential, Female, Genetic Complementation Test, Glycosylation, Heterozygote, Humans, Male, Mannosyltransferases/genetics, Muscle Hypotonia/diagnosis, Mutation, Phenotype, Seizures/diagnosis, Siblings
in
American Journal of Medical Genetics. Part A
volume
143A
issue
13
pages
1414 - 1420
publisher
John Wiley & Sons Inc.
external identifiers
  • pmid:17551933
  • scopus:34447324088
ISSN
1552-4825
DOI
10.1002/ajmg.a.31796
language
English
LU publication?
no
id
dfdb2a3b-b7db-466e-b1f8-38ac9c1a380b
date added to LUP
2021-10-12 00:01:51
date last changed
2024-04-20 13:57:47
@article{dfdb2a3b-b7db-466e-b1f8-38ac9c1a380b,
  abstract     = {{<p>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. (c) 2007 Wiley-Liss, Inc.</p>}},
  author       = {{Kranz, Christian and Sun, Liangwu and Eklund, Erik A and Krasnewich, Donna and Casey, Janet R and Freeze, Hudson H}},
  issn         = {{1552-4825}},
  keywords     = {{Blindness/diagnosis; Child; Congenital Disorders of Glycosylation/complications; DNA Mutational Analysis; DNA, Complementary/genetics; Diagnosis, Differential; Female; Genetic Complementation Test; Glycosylation; Heterozygote; Humans; Male; Mannosyltransferases/genetics; Muscle Hypotonia/diagnosis; Mutation; Phenotype; Seizures/diagnosis; Siblings}},
  language     = {{eng}},
  number       = {{13}},
  pages        = {{1414--1420}},
  publisher    = {{John Wiley & Sons Inc.}},
  series       = {{American Journal of Medical Genetics. Part A}},
  title        = {{CDG-Id in two siblings with partially different phenotypes}},
  url          = {{http://dx.doi.org/10.1002/ajmg.a.31796}},
  doi          = {{10.1002/ajmg.a.31796}},
  volume       = {{143A}},
  year         = {{2007}},
}