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

Erik A. Eklund, Liangwu Sun, Samuel P. Yang, Romela M. Pasion, Erik C. Thorland, Hudson H. Freeze

Research output: Contribution to journalArticle

11 Scopus citations

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 33 kb in the telomeric direction from the ALG6 region, and microsatellite analysis extended the abnormal region to at least 2.5 Mb. We used high-resolution karyotyping to confirm a deletion (10-12 Mb) [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.

Original languageEnglish (US)
Pages (from-to)755-760
Number of pages6
JournalBiochemical and Biophysical Research Communications
Volume339
Issue number3
DOIs
StatePublished - Jan 20 2006

Keywords

  • CDG-Ic
  • Developmental delay
  • Genomic deletion
  • Germ-line mutation
  • hALG6

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

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