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Article: Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature

TitleClinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature
Authors
Issue Date2009
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, Part A, 2009, v. 149 n. 7, p. 1407-1414 How to Cite?
AbstractDeletions of the SHOX gene are well documented and cause disproportionate short stature and variable skeletal abnormalities. In contrast interstitial SHOX duplications limited to PAR1 appear to be very rare and the clinical significance of the only case report in the literature is unclear. Mapping of this duplication has now shown that it includes the entire SHOX gene but little flanking sequence and so will not encompass any of the long-range enhancers required for SHOX transcription. We now describe the clinical and molecular characterization of three additional cases. The duplications all included the SHOX coding sequence but varied in the amount of flanking sequence involved. The probands were ascertained for a variety of reasons: hypotonia and features of Asperger syndrome, Leri-Weill dyschondrosteosis (LWD), and a family history of cleft palate. However, the presence of a duplication did not correlate with any of these features or with evidence of skeletal abnormality. Remarkably, the proband withLWDhad inherited both aSHOXdeletion and a duplication. The effect of the duplications on stature was variable: height appeared to be elevated in some carriers, particularly in those with the largest duplications, but was still within the normal range. SHOX duplications are likely to be under ascertained and more cases need to be identified and characterized in detail in order to accurately determine their phenotypic consequences. © 2009 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/170415
ISSN
2015 Impact Factor: 2.082
2015 SCImago Journal Rankings: 1.115
References

 

DC FieldValueLanguage
dc.contributor.authorThomas, NSen_US
dc.contributor.authorHarvey, JFen_US
dc.contributor.authorBunyan, DJen_US
dc.contributor.authorRankin, Jen_US
dc.contributor.authorGrigelioniene, Gen_US
dc.contributor.authorBruno, DLen_US
dc.contributor.authorTan, TYen_US
dc.contributor.authorTomkins, Sen_US
dc.contributor.authorHastings, Ren_US
dc.date.accessioned2012-10-30T06:08:22Z-
dc.date.available2012-10-30T06:08:22Z-
dc.date.issued2009en_US
dc.identifier.citationAmerican Journal Of Medical Genetics, Part A, 2009, v. 149 n. 7, p. 1407-1414en_US
dc.identifier.issn1552-4825en_US
dc.identifier.urihttp://hdl.handle.net/10722/170415-
dc.description.abstractDeletions of the SHOX gene are well documented and cause disproportionate short stature and variable skeletal abnormalities. In contrast interstitial SHOX duplications limited to PAR1 appear to be very rare and the clinical significance of the only case report in the literature is unclear. Mapping of this duplication has now shown that it includes the entire SHOX gene but little flanking sequence and so will not encompass any of the long-range enhancers required for SHOX transcription. We now describe the clinical and molecular characterization of three additional cases. The duplications all included the SHOX coding sequence but varied in the amount of flanking sequence involved. The probands were ascertained for a variety of reasons: hypotonia and features of Asperger syndrome, Leri-Weill dyschondrosteosis (LWD), and a family history of cleft palate. However, the presence of a duplication did not correlate with any of these features or with evidence of skeletal abnormality. Remarkably, the proband withLWDhad inherited both aSHOXdeletion and a duplication. The effect of the duplications on stature was variable: height appeared to be elevated in some carriers, particularly in those with the largest duplications, but was still within the normal range. SHOX duplications are likely to be under ascertained and more cases need to be identified and characterized in detail in order to accurately determine their phenotypic consequences. © 2009 Wiley-Liss, Inc.en_US
dc.languageengen_US
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.htmlen_US
dc.relation.ispartofAmerican Journal of Medical Genetics, Part Aen_US
dc.subject.meshAbnormalities, Multiple - Geneticsen_US
dc.subject.meshAdolescenten_US
dc.subject.meshBody Height - Geneticsen_US
dc.subject.meshChilden_US
dc.subject.meshDna Mutational Analysisen_US
dc.subject.meshFamilyen_US
dc.subject.meshFemaleen_US
dc.subject.meshGene Duplicationen_US
dc.subject.meshGenetic Heterogeneityen_US
dc.subject.meshHomeodomain Proteins - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshMaleen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPhenotypeen_US
dc.titleClinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on statureen_US
dc.typeArticleen_US
dc.identifier.emailTan, TY:tanty@hku.hken_US
dc.identifier.authorityTan, TY=rp01380en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1002/ajmg.a.32914en_US
dc.identifier.pmid19533800-
dc.identifier.scopuseid_2-s2.0-67649869569en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-67649869569&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume149en_US
dc.identifier.issue7en_US
dc.identifier.spage1407en_US
dc.identifier.epage1414en_US
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridThomas, NS=35407931700en_US
dc.identifier.scopusauthoridHarvey, JF=16184796500en_US
dc.identifier.scopusauthoridBunyan, DJ=6602951354en_US
dc.identifier.scopusauthoridRankin, J=16424719500en_US
dc.identifier.scopusauthoridGrigelioniene, G=6603460712en_US
dc.identifier.scopusauthoridBruno, DL=8047757000en_US
dc.identifier.scopusauthoridTan, TY=8567188100en_US
dc.identifier.scopusauthoridTomkins, S=6701738672en_US
dc.identifier.scopusauthoridHastings, R=35175812800en_US

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