CDG-Id in two siblings with partially different phenotypes
(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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https://lup.lub.lu.se/record/dfdb2a3b-b7db-466e-b1f8-38ac9c1a380b
- author
- Kranz, Christian ; Sun, Liangwu ; Eklund, Erik A LU ; Krasnewich, Donna ; Casey, Janet R and Freeze, Hudson H
- publishing date
- 2007
- 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
-
- scopus:34447324088
- pmid:17551933
- 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}}, }