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Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation

Eklund, Erik A LU ; Sun, Liangwu ; Yang, Samuel P ; Pasion, Romela M ; Thorland, Erik C and Freeze, Hudson H (2006) In Biochemical and Biophysical Research Communications 339(3). p.60-755
Abstract

We describe a new cause of congenital disorder of glycosylation-Ic (CDG-Ic) in a young girl with a rather mild CDG phenotype. Her cells accumulated lipid-linked oligosaccharides lacking three glucose residues, and sequencing of the ALG6 gene showed what initially appeared to be a homozygous novel point mutation (338G>A). However, haplotype analysis showed that the patient does not carry any paternal DNA markers extending 33kb in the telomeric direction from the ALG6 region, and microsatellite analysis extended the abnormal region to at least 2.5Mb. We used high-resolution karyotyping to confirm a deletion (10-12Mb) [del(1)(p31.2p32.3)] and found no structural abnormalities in the father, suggesting a de novo event. Our findings... (More)

We describe a new cause of congenital disorder of glycosylation-Ic (CDG-Ic) in a young girl with a rather mild CDG phenotype. Her cells accumulated lipid-linked oligosaccharides lacking three glucose residues, and sequencing of the ALG6 gene showed what initially appeared to be a homozygous novel point mutation (338G>A). However, haplotype analysis showed that the patient does not carry any paternal DNA markers extending 33kb in the telomeric direction from the ALG6 region, and microsatellite analysis extended the abnormal region to at least 2.5Mb. We used high-resolution karyotyping to confirm a deletion (10-12Mb) [del(1)(p31.2p32.3)] and found no structural abnormalities in the father, suggesting a de novo event. Our findings extend the causes of CDG to larger DNA deletions and identify the first Japanese CDG-Ic mutation.

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author
; ; ; ; and
publishing date
type
Contribution to journal
publication status
published
keywords
Carbohydrate Metabolism, Inborn Errors/genetics, Congenital Disorders of Glycosylation/diagnosis, Female, Gene Deletion, Genetic Predisposition to Disease/genetics, Glucosyltransferases/genetics, Humans, Infant, Newborn, Membrane Proteins/genetics, Mutation
in
Biochemical and Biophysical Research Communications
volume
339
issue
3
pages
60 - 755
publisher
Elsevier
external identifiers
  • scopus:28844503729
  • pmid:16321363
ISSN
0006-291X
DOI
10.1016/j.bbrc.2005.11.073
language
English
LU publication?
no
id
67cff5ac-51e9-48b8-8b9c-b86d6989556c
date added to LUP
2021-10-12 00:05:03
date last changed
2024-01-05 17:50:48
@article{67cff5ac-51e9-48b8-8b9c-b86d6989556c,
  abstract     = {{<p>We describe a new cause of congenital disorder of glycosylation-Ic (CDG-Ic) in a young girl with a rather mild CDG phenotype. Her cells accumulated lipid-linked oligosaccharides lacking three glucose residues, and sequencing of the ALG6 gene showed what initially appeared to be a homozygous novel point mutation (338G&gt;A). However, haplotype analysis showed that the patient does not carry any paternal DNA markers extending 33kb in the telomeric direction from the ALG6 region, and microsatellite analysis extended the abnormal region to at least 2.5Mb. We used high-resolution karyotyping to confirm a deletion (10-12Mb) [del(1)(p31.2p32.3)] and found no structural abnormalities in the father, suggesting a de novo event. Our findings extend the causes of CDG to larger DNA deletions and identify the first Japanese CDG-Ic mutation.</p>}},
  author       = {{Eklund, Erik A and Sun, Liangwu and Yang, Samuel P and Pasion, Romela M and Thorland, Erik C and Freeze, Hudson H}},
  issn         = {{0006-291X}},
  keywords     = {{Carbohydrate Metabolism, Inborn Errors/genetics; Congenital Disorders of Glycosylation/diagnosis; Female; Gene Deletion; Genetic Predisposition to Disease/genetics; Glucosyltransferases/genetics; Humans; Infant, Newborn; Membrane Proteins/genetics; Mutation}},
  language     = {{eng}},
  number       = {{3}},
  pages        = {{60--755}},
  publisher    = {{Elsevier}},
  series       = {{Biochemical and Biophysical Research Communications}},
  title        = {{Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation}},
  url          = {{http://dx.doi.org/10.1016/j.bbrc.2005.11.073}},
  doi          = {{10.1016/j.bbrc.2005.11.073}},
  volume       = {{339}},
  year         = {{2006}},
}