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Am J Hum Genet. 2014 Feb 6;94(2):161-75. doi: 10.1016/j.ajhg.2013.10.024.

Solving glycosylation disorders: fundamental approaches reveal complicated pathways.

Author information

1
Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Medical Research Institute, La Jolla, CA 92037, USA. Electronic address: hudson@sanfordburnham.org.
2
Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
3
Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Medical Research Institute, La Jolla, CA 92037, USA.

Abstract

Over 100 human genetic disorders result from mutations in glycosylation-related genes. In 2013, a new glycosylation disorder was reported every 17 days. This trend will probably continue given that at least 2% of the human genome encodes glycan-biosynthesis and -recognition proteins. Established biosynthetic pathways provide many candidate genes, but finding unanticipated mutated genes will offer new insights into glycosylation. Simple glycobiomarkers can be used in narrowing the candidates identified by exome and genome sequencing, and those can be validated by glycosylation analysis of serum or cells from affected individuals. Model organisms will expand the understanding of these mutations' impact on glycosylation and pathology. Here, we highlight some recently discovered glycosylation disorders and the barriers, breakthroughs, and surprises they presented. We predict that some glycosylation disorders might occur with greater frequency than current estimates of their prevalence. Moreover, the prevalence of some disorders differs substantially between European and African Americans.

PMID:
24507773
PMCID:
PMC3928651
DOI:
10.1016/j.ajhg.2013.10.024
[Indexed for MEDLINE]
Free PMC Article

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