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Article

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

Human molecular genetics - 1 Oct 2012

Timal Sharita, Hoischen Alexander, Lehle Ludwig, Adamowicz Maciej, Huijben Karin, Sykut-Cegielska Jolanta, Paprocka Justyna, Jamroz Ewa, van Spronsen Francjan J, Körner Christian, Gilissen Christian, Rodenburg Richard J, Eidhof Ilse, Van den Heuvel Lambert, Thiel Christian, Wevers Ron A, Morava Eva, Veltman Joris, Lefeber Dirk J

Abstract excerpt

Congenital disorders of glycosylation type I (CDG-I) form a growing group of recessive neurometabolic diseases. Identification of disease genes is compromised by the enormous heterogeneity in clinical symptoms and the large number of potential genes involved. Until now, gene identification included the sequential application of biochemical methods in blood samples and fibroblasts. In genetically unsolved cases,...

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Source

Identifiers

PMID: 22492991
DOI: 10.1093/hmg/dds123

Genes

ALG13
DPAGT1
PGM1

Provenance

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