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Article: MNX1 (HLXB9) mutations in Currarino patients

TitleMNX1 (HLXB9) mutations in Currarino patients
Authors
KeywordsCurrarino
MNX1
Issue Date2009
PublisherWB Saunders Co. The Journal's web site is located at http://www.elsevier.com/locate/jpedsurg
Citation
Journal Of Pediatric Surgery, 2009, v. 44 n. 10, p. 1892-1898 How to Cite?
AbstractPurpose: The combination of partial absence of the sacrum, anorectal anomalies, and presacral mass constitutes Currarino syndrome (CS), which is associated with mutations in MNX1 motor neuron and pancreas homeobox 1 (previously HLXB9). Here, we report on the MNX1 mutations found in a family segregating CS and in 3 sporadic CS patients, as well as on the clinical characteristics of the affected individuals. Methods: MNX1 mutations were identified by direct sequencing the coding regions, intron/exon boundaries of MNX1 in 5 CS Japanese family members and 3 Chinese sporadic cases and their parents. Results: There were 2 novel (P18PfsX37, R243W) and 2 previously described (W288G and IVS2 + 1G > A) mutations. These mutations were not found in 198 control individuals and are predicted to impair the functioning of the MNX1 protein. Conclusions: The variability of the CS phenotype among related or unrelated patients bearing the same mutation advocates for differences in the genetic background of each individual and invokes the implication of additional CS susceptibility genes. © 2009 Elsevier Inc. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/72389
ISSN
2015 Impact Factor: 1.733
2015 SCImago Journal Rankings: 0.802
ISI Accession Number ID
Funding AgencyGrant Number
Hong Kong Research Grants CouncilHKU7509/05M
HKU 7756/08M
Funding Information:

We extend our gratitude to all subjects who participated in the study. This work was supported by the research grant HKU7509/05M and HKU 7756/08M from the Hong Kong Research Grants Council to MMGB and PKT, respectively.

References

 

DC FieldValueLanguage
dc.contributor.authorGarciaBarceló, MMen_HK
dc.contributor.authorLui, VCHen_HK
dc.contributor.authorSo, MTen_HK
dc.contributor.authorMiao, Xen_HK
dc.contributor.authorLeon, TYYen_HK
dc.contributor.authorYuan, ZWen_HK
dc.contributor.authorNgan, ESWen_HK
dc.contributor.authorEhsan, Ten_HK
dc.contributor.authorChung, HYen_HK
dc.contributor.authorKhong, Plen_HK
dc.contributor.authorWong, KKYen_HK
dc.contributor.authorTam, PKHen_HK
dc.date.accessioned2010-09-06T06:41:13Z-
dc.date.available2010-09-06T06:41:13Z-
dc.date.issued2009en_HK
dc.identifier.citationJournal Of Pediatric Surgery, 2009, v. 44 n. 10, p. 1892-1898en_HK
dc.identifier.issn0022-3468en_HK
dc.identifier.urihttp://hdl.handle.net/10722/72389-
dc.description.abstractPurpose: The combination of partial absence of the sacrum, anorectal anomalies, and presacral mass constitutes Currarino syndrome (CS), which is associated with mutations in MNX1 motor neuron and pancreas homeobox 1 (previously HLXB9). Here, we report on the MNX1 mutations found in a family segregating CS and in 3 sporadic CS patients, as well as on the clinical characteristics of the affected individuals. Methods: MNX1 mutations were identified by direct sequencing the coding regions, intron/exon boundaries of MNX1 in 5 CS Japanese family members and 3 Chinese sporadic cases and their parents. Results: There were 2 novel (P18PfsX37, R243W) and 2 previously described (W288G and IVS2 + 1G > A) mutations. These mutations were not found in 198 control individuals and are predicted to impair the functioning of the MNX1 protein. Conclusions: The variability of the CS phenotype among related or unrelated patients bearing the same mutation advocates for differences in the genetic background of each individual and invokes the implication of additional CS susceptibility genes. © 2009 Elsevier Inc. All rights reserved.en_HK
dc.languageengen_HK
dc.publisherWB Saunders Co. The Journal's web site is located at http://www.elsevier.com/locate/jpedsurgen_HK
dc.relation.ispartofJournal of Pediatric Surgeryen_HK
dc.subjectCurrarinoen_HK
dc.subjectMNX1en_HK
dc.subject.meshAbnormalities, Multiple - genetics-
dc.subject.meshAnal Canal - abnormalities-
dc.subject.meshHomeodomain Proteins - genetics-
dc.subject.meshMutation - genetics-
dc.subject.meshSacrum - abnormalities-
dc.titleMNX1 (HLXB9) mutations in Currarino patientsen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0022-3468&volume=44&issue=10&spage=1892&epage=1898&date=2009&atitle=MNX1+(HLXB9)+mutations+in+Currarino+patientsen_HK
dc.identifier.emailGarciaBarceló, MM: mmgarcia@hkucc.hku.hken_HK
dc.identifier.emailLui, VCH: vchlui@hkucc.hku.hken_HK
dc.identifier.emailNgan, ESw: engan@hkucc.hku.hken_HK
dc.identifier.emailKhong, Pl: plkhong@hkucc.hku.hken_HK
dc.identifier.emailWong, KKy: kkywong@hkucc.hku.hken_HK
dc.identifier.emailTam, PKh: paultam@hkucc.hku.hken_HK
dc.identifier.authorityGarciaBarceló, MM=rp00445en_HK
dc.identifier.authorityLui, VCH=rp00363en_HK
dc.identifier.authorityNgan, ESw=rp00422en_HK
dc.identifier.authorityKhong, Pl=rp00467en_HK
dc.identifier.authorityWong, KKy=rp01392en_HK
dc.identifier.authorityTam, PKh=rp00060en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1016/j.jpedsurg.2009.03.039en_HK
dc.identifier.pmid19853743en_HK
dc.identifier.scopuseid_2-s2.0-70350077299en_HK
dc.identifier.hkuros167941en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-70350077299&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume44en_HK
dc.identifier.issue10en_HK
dc.identifier.spage1892en_HK
dc.identifier.epage1898en_HK
dc.identifier.isiWOS:000271331700004-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridGarciaBarceló, MM=6701767303en_HK
dc.identifier.scopusauthoridLui, VCH=7004231344en_HK
dc.identifier.scopusauthoridSo, MT=8748542200en_HK
dc.identifier.scopusauthoridMiao, X=7102585391en_HK
dc.identifier.scopusauthoridLeon, TYY=10641704600en_HK
dc.identifier.scopusauthoridYuan, ZW=8672008500en_HK
dc.identifier.scopusauthoridNgan, ESW=22234827500en_HK
dc.identifier.scopusauthoridEhsan, T=41361080900en_HK
dc.identifier.scopusauthoridChung, HY=34568741300en_HK
dc.identifier.scopusauthoridKhong, Pl=7006693233en_HK
dc.identifier.scopusauthoridWong, KKY=24438686400en_HK
dc.identifier.scopusauthoridTam, PKH=7202539421en_HK

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