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Article: Novel mutations in the PATCHED gene in basal cell nevus syndrome

TitleNovel mutations in the PATCHED gene in basal cell nevus syndrome
Authors
Issue Date2002
PublisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ymgme
Citation
Molecular Genetics And Metabolism, 2002, v. 76 n. 1, p. 57-61 How to Cite?
AbstractBasal cell nevus syndrome (BCNS) is an autosomal dominant disease characterized by the presence of multiple basal cell carcinomas, odontogenic keratocysts, palmoplantar pits, and calcification in the falx cerebri caused by mutational inactivation of the PTCH gene. To investigate the molecular basis of BCNS in Chinese, we did a mutational analysis of the PTCH gene by performing denaturing high-performance liquid chromatography in three BCNS families. In this study, three novel mutations, two 1-bp frameshift insertions, i.e., 1468insA and 2392insC, and one 8-bp deletion, i.e., IVS5 + 1delGTAAGTGT, affecting a donor splice site, were identified. All the mutations cause a shift of the open reading frames and lead to premature termination of PTCH protein translation. Our results showed that mutational inactivation of the PTCH gene causes BCNS in Chinese. © 2002 Elsevier Science (USA). All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/148409
ISSN
2015 Impact Factor: 3.093
2015 SCImago Journal Rankings: 1.520
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLam, CWen_US
dc.contributor.authorLeung, CYen_US
dc.contributor.authorLee, KCen_US
dc.contributor.authorXie, Jen_US
dc.contributor.authorLo, FMen_US
dc.contributor.authorAu, TSen_US
dc.contributor.authorTong, SFen_US
dc.contributor.authorPoon, MKen_US
dc.contributor.authorChan, LYen_US
dc.contributor.authorLuk, NMen_US
dc.date.accessioned2012-05-29T06:12:47Z-
dc.date.available2012-05-29T06:12:47Z-
dc.date.issued2002en_US
dc.identifier.citationMolecular Genetics And Metabolism, 2002, v. 76 n. 1, p. 57-61en_US
dc.identifier.issn1096-7192en_US
dc.identifier.urihttp://hdl.handle.net/10722/148409-
dc.description.abstractBasal cell nevus syndrome (BCNS) is an autosomal dominant disease characterized by the presence of multiple basal cell carcinomas, odontogenic keratocysts, palmoplantar pits, and calcification in the falx cerebri caused by mutational inactivation of the PTCH gene. To investigate the molecular basis of BCNS in Chinese, we did a mutational analysis of the PTCH gene by performing denaturing high-performance liquid chromatography in three BCNS families. In this study, three novel mutations, two 1-bp frameshift insertions, i.e., 1468insA and 2392insC, and one 8-bp deletion, i.e., IVS5 + 1delGTAAGTGT, affecting a donor splice site, were identified. All the mutations cause a shift of the open reading frames and lead to premature termination of PTCH protein translation. Our results showed that mutational inactivation of the PTCH gene causes BCNS in Chinese. © 2002 Elsevier Science (USA). All rights reserved.en_US
dc.languageengen_US
dc.publisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ymgmeen_US
dc.relation.ispartofMolecular Genetics and Metabolismen_US
dc.subject.meshAdulten_US
dc.subject.meshBasal Cell Nevus Syndrome - Geneticsen_US
dc.subject.meshChilden_US
dc.subject.meshExonsen_US
dc.subject.meshFemaleen_US
dc.subject.meshFrameshift Mutationen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshMaleen_US
dc.subject.meshMembrane Proteins - Geneticsen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.subject.meshReceptors, Cell Surfaceen_US
dc.subject.meshSequence Deletionen_US
dc.titleNovel mutations in the PATCHED gene in basal cell nevus syndromeen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1016/S1096-7192(02)00021-5en_US
dc.identifier.pmid12175781-
dc.identifier.scopuseid_2-s2.0-18544371994en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-18544371994&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume76en_US
dc.identifier.issue1en_US
dc.identifier.spage57en_US
dc.identifier.epage61en_US
dc.identifier.isiWOS:000176371400008-
dc.publisher.placeUnited Statesen_US

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