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Article: Functional analyses of RET mutations in Chinese hirschsprung disease patients
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TitleFunctional analyses of RET mutations in Chinese hirschsprung disease patients
 
AuthorsLeon, TYY
So, MT1
Lui, VCH1
Hofstra, RMW
Tam, PKH1
Ngan, ESW1
Garcia-Barcelo, MM1
 
KeywordsRET
Mutation
Megacolon
Hirschsprung
Aganglionosis
 
Issue Date2012
 
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/102526943
 
CitationBirth Defects Research Part A: Clinical and Molecular Teratology, 2012, v. 94 n. 1, p. 47-51 [How to Cite?]
DOI: http://dx.doi.org/10.1002/bdra.22863
 
AbstractBACKGROUND: Hirschsprung disease (HSCR) is a congenital disease characterized by the absence of ganglion cells in various length of distal digestive tract. The rearranged during transfection gene (RET) is considered the major gene in HSCR. Although an increasing number of HSCR-associated RET coding sequence (CDS) mutations have been identified in recent years, not many have been investigated for functional consequence on the RET protein. METHODS AND RESULTS: We examined the functional implications of the de novo RET-CDS mutations V145G, Y483X, V636fsX1, and F961L that we first identified in sporadic Chinese patients with HSCR. The V145G disrupted RET glycosylation and F961L RET phosphorylation. Presumably, the truncation mutations would affect the translocation or the anchoring of the RET protein onto the cellular membrane. CONCLUSION: The study of RET-CDS mutations that appear de novo is essential not only for understanding the mechanistic of the disease but also for penetrance and recurrence risk estimations, being the ultimate goal for the improvement in disease management and counseling. © 2011 Wiley Periodicals, Inc.
 
ISSN1542-0752
2012 SCImago Journal Rankings: 1.014
 
DOIhttp://dx.doi.org/10.1002/bdra.22863
 
ISI Accession Number IDWOS:000298951600008
Funding AgencyGrant Number
Hong Kong Research Grants Council765407M
University of Hong Kong
Funding Information:

This work was supported by research grants from the Hong Kong Research Grants Council (765407M) and the University of Hong Kong Seed Funding Programme for Basic Research to Maria-Merce Garcia-Barcelo.

 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorLeon, TYY
 
dc.contributor.authorSo, MT
 
dc.contributor.authorLui, VCH
 
dc.contributor.authorHofstra, RMW
 
dc.contributor.authorTam, PKH
 
dc.contributor.authorNgan, ESW
 
dc.contributor.authorGarcia-Barcelo, MM
 
dc.date.accessioned2012-03-27T09:03:54Z
 
dc.date.available2012-03-27T09:03:54Z
 
dc.date.issued2012
 
dc.description.abstractBACKGROUND: Hirschsprung disease (HSCR) is a congenital disease characterized by the absence of ganglion cells in various length of distal digestive tract. The rearranged during transfection gene (RET) is considered the major gene in HSCR. Although an increasing number of HSCR-associated RET coding sequence (CDS) mutations have been identified in recent years, not many have been investigated for functional consequence on the RET protein. METHODS AND RESULTS: We examined the functional implications of the de novo RET-CDS mutations V145G, Y483X, V636fsX1, and F961L that we first identified in sporadic Chinese patients with HSCR. The V145G disrupted RET glycosylation and F961L RET phosphorylation. Presumably, the truncation mutations would affect the translocation or the anchoring of the RET protein onto the cellular membrane. CONCLUSION: The study of RET-CDS mutations that appear de novo is essential not only for understanding the mechanistic of the disease but also for penetrance and recurrence risk estimations, being the ultimate goal for the improvement in disease management and counseling. © 2011 Wiley Periodicals, Inc.
 
dc.description.natureLink_to_subscribed_fulltext
 
dc.identifier.citationBirth Defects Research Part A: Clinical and Molecular Teratology, 2012, v. 94 n. 1, p. 47-51 [How to Cite?]
DOI: http://dx.doi.org/10.1002/bdra.22863
 
dc.identifier.doihttp://dx.doi.org/10.1002/bdra.22863
 
dc.identifier.epage51
 
dc.identifier.hkuros198846
 
dc.identifier.isiWOS:000298951600008
Funding AgencyGrant Number
Hong Kong Research Grants Council765407M
University of Hong Kong
Funding Information:

This work was supported by research grants from the Hong Kong Research Grants Council (765407M) and the University of Hong Kong Seed Funding Programme for Basic Research to Maria-Merce Garcia-Barcelo.

 
dc.identifier.issn1542-0752
2012 SCImago Journal Rankings: 1.014
 
dc.identifier.issue1
 
dc.identifier.pmid22131258
 
dc.identifier.scopuseid_2-s2.0-84855736120
 
dc.identifier.spage47
 
dc.identifier.urihttp://hdl.handle.net/10722/145951
 
dc.identifier.volume94
 
dc.languageeng
 
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/102526943
 
dc.publisher.placeUnited States
 
dc.relation.ispartofBirth Defects Research Part A: Clinical and Molecular Teratology
 
dc.relation.referencesReferences in Scopus
 
dc.rightsBirth Defects Research Part A: Clinical and Molecular Teratology. Copyright © John Wiley & Sons, Inc.
 
dc.subject.meshAsian continental ancestry group - genetics
 
dc.subject.meshHirschsprung disease - genetics
 
dc.subject.meshMutation
 
dc.subject.meshPenetrance
 
dc.subject.meshProto-oncogene proteins c-RET - genetics - metabolism
 
dc.subjectRET
 
dc.subjectMutation
 
dc.subjectMegacolon
 
dc.subjectHirschsprung
 
dc.subjectAganglionosis
 
dc.titleFunctional analyses of RET mutations in Chinese hirschsprung disease patients
 
dc.typeArticle
 
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<contributor.author>So, MT</contributor.author>
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Author Affiliations
  1. The University of Hong Kong
  2. Universitair Medisch Centrum Groningen