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Article: Functional analyses of RET mutations in Chinese hirschsprung disease patients

TitleFunctional analyses of RET mutations in Chinese hirschsprung disease patients
Authors
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
Citation
Birth Defects Research Part A: Clinical and Molecular Teratology, 2012, v. 94 n. 1, p. 47-51 How to Cite?
Abstract
BACKGROUND: 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.
Persistent Identifierhttp://hdl.handle.net/10722/145951
ISSN
2013 Impact Factor: 2.211
ISI Accession Number ID
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.

References

 

DC FieldValueLanguage
dc.contributor.authorLeon, TYYen_HK
dc.contributor.authorSo, MTen_HK
dc.contributor.authorLui, VCHen_HK
dc.contributor.authorHofstra, RMWen_HK
dc.contributor.authorTam, PKHen_HK
dc.contributor.authorNgan, ESWen_HK
dc.contributor.authorGarcia-Barcelo, MMen_HK
dc.date.accessioned2012-03-27T09:03:54Z-
dc.date.available2012-03-27T09:03:54Z-
dc.date.issued2012en_HK
dc.identifier.citationBirth Defects Research Part A: Clinical and Molecular Teratology, 2012, v. 94 n. 1, p. 47-51en_HK
dc.identifier.issn1542-0752en_HK
dc.identifier.urihttp://hdl.handle.net/10722/145951-
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.en_HK
dc.languageengen_US
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/102526943en_HK
dc.relation.ispartofBirth Defects Research Part A: Clinical and Molecular Teratologyen_HK
dc.rightsBirth Defects Research Part A: Clinical and Molecular Teratology. Copyright © John Wiley & Sons, Inc.-
dc.subjectRETen_HK
dc.subjectMutationen_HK
dc.subjectMegacolonen_HK
dc.subjectHirschsprungen_HK
dc.subjectAganglionosisen_HK
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.titleFunctional analyses of RET mutations in Chinese hirschsprung disease patientsen_HK
dc.typeArticleen_HK
dc.identifier.emailSo, MT: jaymtso@hku.hken_HK
dc.identifier.emailLui, VCH: vchlui@hku.hken_HK
dc.identifier.emailTam, PKH: paultam@hku.hken_HK
dc.identifier.emailNgan, ESW: engan@hku.hken_HK
dc.identifier.emailGarcia-Barcelo, MM: mmgarcia@hku.hk-
dc.identifier.authorityLui, VCH=rp00363en_HK
dc.identifier.authorityTam, PKH=rp00060en_HK
dc.identifier.authorityNgan, ESW=rp00422en_HK
dc.identifier.authorityGarcia-Barcelo, MM=rp00445en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/bdra.22863en_HK
dc.identifier.pmid22131258en_HK
dc.identifier.scopuseid_2-s2.0-84855736120en_HK
dc.identifier.hkuros198846en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-84855736120&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume94en_HK
dc.identifier.issue1en_HK
dc.identifier.spage47en_HK
dc.identifier.epage51en_HK
dc.identifier.isiWOS:000298951600008-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridGarciaBarceló, MM=6701767303en_HK
dc.identifier.scopusauthoridNgan, ES=22234827500en_HK
dc.identifier.scopusauthoridTam, PK=7202539421en_HK
dc.identifier.scopusauthoridHofstra, RM=7006771436en_HK
dc.identifier.scopusauthoridLui, VC=7004231344en_HK
dc.identifier.scopusauthoridSo, MT=8748542200en_HK
dc.identifier.scopusauthoridLeon, TY=10641704600en_HK

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