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Using whole exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology

Descriptive

TypeOfResource
Text
TitleInfo
Title
Using whole exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology
Name (type = personal)
NamePart (type = family)
Wang
NamePart (type = given)
Nan
Affiliation
Genetics, Rutgers University
Role
RoleTerm (authority = marcrt); (type = text)
author
Name (type = personal)
NamePart (type = family)
Zhang
NamePart (type = given)
Yeting
Affiliation
Genetics, Rutgers University
Role
RoleTerm (authority = marcrt); (type = text)
author
Name (type = personal)
NamePart (type = family)
Gedvilaite
NamePart (type = given)
Erika
Affiliation
Genetics, Rutgers University
Role
RoleTerm (authority = marcrt); (type = text)
author
Name (type = personal)
NamePart (type = family)
Loh
NamePart (type = given)
Jui Wan
Affiliation
Genetics, Rutgers University
Role
RoleTerm (authority = marcrt); (type = text)
author
Name (type = personal)
NamePart (type = family)
Lin
NamePart (type = given)
Timothy
Affiliation
Genetics, Rutgers University
Role
RoleTerm (authority = marcrt); (type = text)
author
Name (type = personal)
NamePart (type = family)
Liu
NamePart (type = given)
Xiuping
Affiliation
University of Texas M.D. Anderson Cancer Center
Role
RoleTerm (authority = marcrt); (type = text)
author
Name (type = personal)
NamePart (type = family)
Liu
NamePart (type = given)
Chang-Gong
Role
RoleTerm (authority = marcrt); (type = text)
author
Affiliation
University of Texas M.D. Anderson Cancer Center
Name (type = personal)
NamePart (type = family)
Kumar
NamePart (type = given)
Dibyendu
Affiliation
Waksman Institute of Microbiology, Rutgers University
Role
RoleTerm (authority = marcrt); (type = text)
author
Name (type = personal)
NamePart (type = family)
Donnelly
NamePart (type = given)
Robert
Affiliation
Pathology & Laboratory Medicine (New Jersey Medical School, NJMS), Rutgers University
Role
RoleTerm (authority = marcrt); (type = text)
author
Name (type = personal)
NamePart (type = family)
Raymond
NamePart (type = given)
Kimiyo
Affiliation
Mayo Clinic College of Medicine
Role
RoleTerm (authority = marcrt); (type = text)
author
Name (type = personal)
NamePart (type = family)
Schuchman
NamePart (type = given)
Edward H.
Affiliation
Icahn School of Medicine at Mount Sinai
Role
RoleTerm (authority = marcrt); (type = text)
author
Name (type = personal)
NamePart (type = family)
Sleat
NamePart (type = given)
David E.
Affiliation
Center for Advanced Biotechnology and Medicine (CABM), Rutgers University
Role
RoleTerm (authority = marcrt); (type = text)
author
Name (type = personal)
NamePart (type = family)
Lobel
NamePart (type = given)
Peter
Affiliation
Center for Advanced Biotechnology and Medicine (CABM), Rutgers University
Role
RoleTerm (authority = marcrt); (type = text)
author
Name (authority = orcid); (authorityURI = http://id.loc.gov/vocabulary/identifiers/orcid.html); (type = personal); (valueURI = http://orcid.org/0000-0001-6469-8733)
NamePart (type = family)
Xing
NamePart (type = given)
Jinchuan
Affiliation
Genetics, Rutgers University
Role
RoleTerm (authority = marcrt); (type = text)
author
Name (authority = RutgersOrg-Department); (type = corporate)
NamePart
Genetics
Name (authority = RutgersOrg-School); (type = corporate)
NamePart
School of Arts and Sciences (SAS) (New Brunswick)
Name (authority = RutgersOrg-School); (type = corporate)
NamePart
Waksman Institute of Microbiology
Name (authority = RutgersOrg-Department); (type = corporate)
NamePart
Pathology & Laboratory Medicine (New Jersey Medical School, NJMS)
Name (authority = RutgersOrg-School); (type = corporate)
NamePart
New Jersey Medical School (NJMS)
Name (authority = RutgersOrg-School); (type = corporate)
NamePart
Center for Advanced Biotechnology and Medicine (CABM)
Genre (authority = RULIB-FS)
Article, Refereed
Genre (authority = NISO JAV)
Accepted Manuscript (AM)
Note (type = peerReview)
Peer reviewed
OriginInfo
DateIssued (encoding = w3cdtf); (keyDate = yes); (qualifier = exact)
2017
Language
LanguageTerm (authority = ISO 639-3:2007); (type = text)
English
PhysicalDescription
InternetMediaType
application/pdf
Extent
36 p.
Subject (authority = local)
Topic
Lysosomal storage diseases
Subject (authority = local)
Topic
Whole exome sequencing
Subject (authority = local)
Topic
Disease-causing variants identification
Subject (authority = local)
Topic
Metabolic disorders
Abstract (type = abstract)
Lysosomes are membrane-bound, acidic eukaryotic cellular organelles that play important roles in the degradation of macromolecules. Mutations that cause the loss of lysosomal protein function can lead to a group of disorders categorized as the lysosomal storage diseases (LSDs). Suspicion of LSD is frequently based on clinical and pathologic findings, but in some cases, the underlying genetic and biochemical defects remain unknown. Here, we performed whole exome sequencing (WES) on 14 suspected LSD cases to evaluate the feasibility of using WES for identifying causal mutations. By examining 2,157 candidate genes potentially associated with lysosomal function, we identified eight variants in five genes as candidate disease-causing variants in four individuals. These included both known and novel mutations. Variants were corroborated by targeted sequencing and, when possible, functional assays. In addition, we identified nonsense mutations in two individuals in genes that are not known to have lysosomal function. However, mutations in these genes could have resulted in phenotypes that were diagnosed as LSDs. This study demonstrates that WES can be used to identify causal mutations in suspected LSD cases. We also demonstrate cases where a confounding clinical phenotype may potentially reflect more than one lysosomal protein defect.
Extension
DescriptiveEvent
Type
Citation
DateTime (encoding = w3cdtf)
2017
AssociatedObject
Type
Journal
Relationship
Has part
Name
Human Mutation
Reference (type = url)
http://dx.doi.org/10.1002/humu.23291
Identifier (type = volume and issue)
38(11)
Detail
1491-1499
RelatedItem (type = host)
TitleInfo
Title
Xing, Jinchuan
Identifier (type = local)
rucore30185800001
RelatedItem (type = host)
TitleInfo
Title
Zhang, Yeting
Identifier (type = local)
rucore30233800001
RelatedItem (type = host)
TitleInfo
Title
Loh, Jui Wan
Identifier (type = local)
rucore30234000001
RelatedItem (type = host)
TitleInfo
Title
Lin, Timothy
Identifier (type = local)
rucore30234100001
RelatedItem (type = host)
TitleInfo
Title
Kumar, Dibyendu
Identifier (type = local)
rucore30234200001
RelatedItem (type = host)
TitleInfo
Title
Donnelly, Robert
Identifier (type = local)
rucore30234300001
RelatedItem (type = host)
TitleInfo
Title
Sleat, David E.
Identifier (type = local)
rucore30234400001
RelatedItem (type = host)
TitleInfo
Title
Lobel, Peter
Identifier (type = local)
rucore30234500001
Location
PhysicalLocation (authority = marcorg); (displayLabel = Rutgers, The State University of New Jersey)
NjNbRU
Identifier (type = doi)
doi:10.7282/T38918NW
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Rights

RightsDeclaration (AUTHORITY = FS); (ID = rulibRdec0004); (TYPE = [FS] statement #1)
Copyright for scholarly resources published in RUcore is retained by the copyright holder. By virtue of its appearance in this open access medium, you are free to use this resource, with proper attribution, in educational and other non-commercial settings. Other uses, such as reproduction or republication, may require the permission of the copyright holder.
Copyright
Status
Copyright protected
Availability
Status
Open
Reason
Permission or license
RightsEvent
Type
Permission or license
AssociatedObject
Type
License
Name
Multiple author license v. 1
Detail
I hereby grant to Rutgers, The State University of New Jersey (Rutgers) the non-exclusive right to retain, reproduce, and distribute the deposited work (Work) in whole or in part, in and from its electronic format, without fee. This agreement does not represent a transfer of copyright to Rutgers. Rutgers may make and keep more than one copy of the Work for purposes of security, backup, preservation, and access and may migrate the Work to any medium or format for the purpose of preservation and access in the future. Rutgers will not make any alteration, other than as allowed by this agreement, to the Work. I represent and warrant to Rutgers that the Work is my original work. I also represent that the Work does not, to the best of my knowledge, infringe or violate any rights of others. I further represent and warrant that I have obtained all necessary rights to permit Rutgers to reproduce and distribute the Work and that any third-party owned content is clearly identified and acknowledged within the Work. By granting this license, I acknowledge that I have read and agreed to the terms of this agreement and all related RUcore and Rutgers policies.
RightsEvent
Type
Embargo
DateTime (encoding = w3cdtf); (point = end)
2018-07-25
Detail
Access to this PDF has been restricted at the publisher's request. It will be publicly available after July 25, 2018.
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Technical

RULTechMD (ID = TECHNICAL1)
ContentModel
Document
CreatingApplication
Version
1.4
DateCreated (point = end); (encoding = w3cdtf); (qualifier = exact)
2017-07-12T16:57:12
DateCreated (point = end); (encoding = w3cdtf); (qualifier = exact)
2017-07-12T16:57:12
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Acrobat Distiller 9.0 (Windows)
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