DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation

Congenital disorders of glycosylation (CDG) are inherited autosomal-recessive diseases that impair N-glycosylation. Approximately 20% of patients do not survive beyond the age of 5 years old as a result of widespread organ dysfunction. Although most patients receive a CDG diagnosis based on abnormal...

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Veröffentlicht in:	American journal of human genetics 2012-02, Vol.90 (2), p.363-368
Hauptverfasser:	Jones, Melanie A., Ng, Bobby G., Bhide, Shruti, Chin, Ephrem, Rhodenizer, Devin, He, Ping, Losfeld, Marie-Estelle, He, Miao, Raymond, Kimiyo, Berry, Gerard, Freeze, Hudson H., Hegde, Madhuri R.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - enzymology Abnormalities, Multiple - genetics Base Sequence Biological and medical sciences Biomarkers - metabolism Child Congenital diseases Congenital Disorders of Glycosylation - enzymology Congenital Disorders of Glycosylation - genetics Exome Fibroblasts - metabolism Fundamental and applied biological sciences. Psychology Gene expression General aspects. Genetic counseling Genetic research Genetics of eukaryotes. Biological and molecular evolution Genomics Glycosylation Hexosyltransferases - genetics Hexosyltransferases - metabolism Humans Male Medical genetics Medical sciences Membrane Proteins - genetics Membrane Proteins - metabolism Molecular and cellular biology Molecular Sequence Data Mutation Pedigree Transferrin - metabolism
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