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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2011-7-27
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pubmed:abstractText |
Linkage analysis with subsequent candidate gene sequencing is typically used to diagnose novel inherited syndromes. It is now possible to expedite diagnosis through the sequencing of all coding regions of the genome (the exome) or full genomes. We sequenced the exomes of four members of a family presenting with spondylo-epiphyseal dysplasia and retinitis pigmentosa and identified a six-base-pair (6-bp) deletion in GNPTG, the gene implicated in mucolipidosis type III?. The diagnosis was confirmed by biochemical studies and both broadens the mucolipidosis type III phenotype and demonstrates the clinical utility of next-generation sequencing to diagnose rare genetic diseases.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1096-9896
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pubmed:author |
pubmed-author:BoydNikiN,
pubmed-author:EydouxPatriceP,
pubmed-author:FernandezBridget ABA,
pubmed-author:GallagherBarryB,
pubmed-author:GreenJaneJ,
pubmed-author:HaGavinG,
pubmed-author:Heravi-MoussaviAlirezaA,
pubmed-author:HirstMartinM,
pubmed-author:HuntsmanDavid GDG,
pubmed-author:JonesSteven JmSJ,
pubmed-author:MarraMarco AMA,
pubmed-author:NielsenTorstenT,
pubmed-author:OloumiArushaA,
pubmed-author:SchraderKasmintan AKA,
pubmed-author:SenzJanineJ,
pubmed-author:ShahSohrab PSP,
pubmed-author:WatersPaula JPJ,
pubmed-author:WhelanJamesJ,
pubmed-author:YoungTerry-LynnTL
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pubmed:copyrightInfo |
Copyright © 2011 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
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pubmed:issnType |
Electronic
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pubmed:volume |
225
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
12-8
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pubmed:meshHeading |
pubmed-meshheading:21792934-Adult,
pubmed-meshheading:21792934-Chromosome Mapping,
pubmed-meshheading:21792934-Computational Biology,
pubmed-meshheading:21792934-DNA Mutational Analysis,
pubmed-meshheading:21792934-Female,
pubmed-meshheading:21792934-Gene Deletion,
pubmed-meshheading:21792934-Genetic Linkage,
pubmed-meshheading:21792934-Glycoside Hydrolases,
pubmed-meshheading:21792934-Heterozygote,
pubmed-meshheading:21792934-Humans,
pubmed-meshheading:21792934-Male,
pubmed-meshheading:21792934-Mucolipidoses,
pubmed-meshheading:21792934-Mutation,
pubmed-meshheading:21792934-Osteochondrodysplasias,
pubmed-meshheading:21792934-Pedigree,
pubmed-meshheading:21792934-Rare Diseases,
pubmed-meshheading:21792934-Retinitis Pigmentosa,
pubmed-meshheading:21792934-Transferases (Other Substituted Phosphate Groups)
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pubmed:year |
2011
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pubmed:articleTitle |
Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities.
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pubmed:affiliation |
Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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