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Article: Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism

TitleNovel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism
Authors
KeywordsAutosomal dominant
Cherubism
Loss of bone in jaws
SH3BP2 mutation hotspot
Issue Date2003
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
Citation
American Journal Of Medical Genetics, 2003, v. 121 A n. 1, p. 37-40 How to Cite?
AbstractCherubism is a rare autosomal dominant inherited condition caused by mutations in the c-Abl-binding protein SH3BP2. It is characterized by multiple cystic giant cell lesions of the jaw appearing in early childhood with stabilization and remission after puberty. In the present study, we used direct sequence analysis of the SH3BP2 gene of several individuals from a family with cherubism to search for additional SH3BP2 mutations resulting in cherubism. In affected relatives, we found a previously unreported G to A transition in exon 9 leading to a Gly to Arg substitution at amino acid position 420. G420R has been reported previously with a G to C transversion. To date there have been no disease causing mutations outside exon 9. Therefore, the amino acid sequence from positions 415 to 420 may represent a specific protein domain which, when disrupted, leads to the cherubism phenotype. © 2003 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/44384
ISSN
2015 Impact Factor: 2.082
2015 SCImago Journal Rankings: 1.115
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLo, Ben_HK
dc.contributor.authorFaiyazUlHaque, Men_HK
dc.contributor.authorKennedy, Sen_HK
dc.contributor.authorAviv, Ren_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorTeebi, ASen_HK
dc.date.accessioned2007-09-12T03:52:30Z-
dc.date.available2007-09-12T03:52:30Z-
dc.date.issued2003en_HK
dc.identifier.citationAmerican Journal Of Medical Genetics, 2003, v. 121 A n. 1, p. 37-40en_HK
dc.identifier.issn1552-4825en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44384-
dc.description.abstractCherubism is a rare autosomal dominant inherited condition caused by mutations in the c-Abl-binding protein SH3BP2. It is characterized by multiple cystic giant cell lesions of the jaw appearing in early childhood with stabilization and remission after puberty. In the present study, we used direct sequence analysis of the SH3BP2 gene of several individuals from a family with cherubism to search for additional SH3BP2 mutations resulting in cherubism. In affected relatives, we found a previously unreported G to A transition in exon 9 leading to a Gly to Arg substitution at amino acid position 420. G420R has been reported previously with a G to C transversion. To date there have been no disease causing mutations outside exon 9. Therefore, the amino acid sequence from positions 415 to 420 may represent a specific protein domain which, when disrupted, leads to the cherubism phenotype. © 2003 Wiley-Liss, Inc.en_HK
dc.languageengen_HK
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.htmlen_HK
dc.relation.ispartofAmerican Journal of Medical Geneticsen_HK
dc.subjectAutosomal dominanten_HK
dc.subjectCherubismen_HK
dc.subjectLoss of bone in jawsen_HK
dc.subjectSH3BP2 mutation hotspoten_HK
dc.subject.meshSh3bp2 mutation hotspoten_HK
dc.subject.meshAutosomal dominanten_HK
dc.subject.meshLoss of bone in jawsen_HK
dc.subject.meshCarrier proteins - geneticsen_HK
dc.titleNovel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubismen_HK
dc.typeArticleen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.doi10.1002/ajmg.a.20226en_HK
dc.identifier.pmid12900899-
dc.identifier.scopuseid_2-s2.0-0041321493en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0041321493&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume121 Aen_HK
dc.identifier.issue1en_HK
dc.identifier.spage37en_HK
dc.identifier.epage40en_HK
dc.identifier.isiWOS:000184516600007-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridLo, B=7102639051en_HK
dc.identifier.scopusauthoridFaiyazUlHaque, M=6603280179en_HK
dc.identifier.scopusauthoridKennedy, S=7401494096en_HK
dc.identifier.scopusauthoridAviv, R=36822601000en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridTeebi, AS=7004661664en_HK

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