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Article: Novel donor splice site mutation of ABCG5 gene in sitosterolemia

TitleNovel donor splice site mutation of ABCG5 gene in sitosterolemia
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. 75 n. 2, p. 178-180 How to Cite?
AbstractIn a patient with sitosterolemia, we found two different mutations of the ATP-binding cassette, subfamily G, member 5 (ABCG5) gene. The first is a missense mutation that changes the amino acid residue at position 419 from arginine to histidine, i.e., R419H. The second is a novel splicing mutation affecting the invariant guanine at the first base of the donor splice site of intron 12, i.e., IVS12 + 1G → A. The father of the patient is heterozygous for the missense mutation, and the mother is heterozygous for the splicing mutation. No mutations were found in the sister of the patient. Up until now, the missense mutation has only been found in Japanese patients with sitosterolemia. We believe that R419H in our Chinese patient may have the same origin as the mutation in the Japanese patients with sitosterolemia. © 2002 Elsevier Science (USA).
Persistent Identifierhttp://hdl.handle.net/10722/148280
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.authorCheng, AWFen_US
dc.contributor.authorTong, SFen_US
dc.contributor.authorChan, YWen_US
dc.date.accessioned2012-05-29T06:11:58Z-
dc.date.available2012-05-29T06:11:58Z-
dc.date.issued2002en_US
dc.identifier.citationMolecular Genetics And Metabolism, 2002, v. 75 n. 2, p. 178-180en_US
dc.identifier.issn1096-7192en_US
dc.identifier.urihttp://hdl.handle.net/10722/148280-
dc.description.abstractIn a patient with sitosterolemia, we found two different mutations of the ATP-binding cassette, subfamily G, member 5 (ABCG5) gene. The first is a missense mutation that changes the amino acid residue at position 419 from arginine to histidine, i.e., R419H. The second is a novel splicing mutation affecting the invariant guanine at the first base of the donor splice site of intron 12, i.e., IVS12 + 1G → A. The father of the patient is heterozygous for the missense mutation, and the mother is heterozygous for the splicing mutation. No mutations were found in the sister of the patient. Up until now, the missense mutation has only been found in Japanese patients with sitosterolemia. We believe that R419H in our Chinese patient may have the same origin as the mutation in the Japanese patients with sitosterolemia. © 2002 Elsevier Science (USA).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.meshAtp-Binding Cassette Transporters - Geneticsen_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshHumansen_US
dc.subject.meshLipoproteins - Geneticsen_US
dc.subject.meshMaleen_US
dc.subject.meshMutation, Missenseen_US
dc.subject.meshRna Splice Sites - Geneticsen_US
dc.subject.meshSitosterols - Blooden_US
dc.titleNovel donor splice site mutation of ABCG5 gene in sitosterolemiaen_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.doi10.1006/mgme.2001.3285en_US
dc.identifier.pmid11855938-
dc.identifier.scopuseid_2-s2.0-0036351125en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0036351125&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume75en_US
dc.identifier.issue2en_US
dc.identifier.spage178en_US
dc.identifier.epage180en_US
dc.identifier.isiWOS:000174355300011-
dc.publisher.placeUnited Statesen_US

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