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Article: A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome

TitleA novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome
Authors
KeywordsArterial tortuosity syndrome
Connective tissue disorder
Pulmonary hypertension
SLC2A10 mutation
Issue Date2009
PublisherElsevier Ireland Ltd. The Journal's web site is located at http://www.elsevier.com/locate/atherosclerosis
Citation
Atherosclerosis, 2009, v. 203 n. 2, p. 466-471 How to Cite?
AbstractArterial tortuosity syndrome is an autosomal recessive disorder characterized by severe tortuosity of greater and systemic arteries in affected individuals. In addition, patients display connective tissue features which include hyperextensible skin, hypermobility of joints and characteristic facial features. This syndrome is caused by mutation in SLC2A10 gene which encodes for the facilitative glucose transporter, GLUT10. We describe seven patients of two unrelated Saudi Arabian families who display tortuosity, dilatation and stenosis of arteries, pulmonary hypertension and other cardiovascular manifestations. These patients exhibit characteristic connective tissue phenotypes and distinctive facial features. In the single patient of Family 1, sequencing of the candidate gene, SLC2A10, identified a novel missense c.313C > T mutation encoding a p.Arg105Cys substitution in the second extracellular domain of GLUT10. The Arg105 in GLUT10 is highly conserved across species and its replacement with cysteine is predicted to be pathogenic. In the second family, all of the six affected individuals carry recurrent c.243C > G missense mutation encoding a p.Ser81Arg change in the third transmembrane domain of GLUT10. The present study suggests that there exists an intra- and inter-familial phenotypic variability in arterial tortuosity patients carrying identical or different mutations in SLC2A10 gene. While skin hyperextensibility, small joint hypermobility, and facial features are similarly expressed in these patients, there is a range of other phenotypes which include arterial tortuosity and associated complications, and abnormalities of other organs. © 2008 Elsevier Ireland Ltd. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/138685
ISSN
2015 Impact Factor: 3.942
2015 SCImago Journal Rankings: 1.819
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorFaiyazUlHaque, Men_HK
dc.contributor.authorZaidi, SHEen_HK
dc.contributor.authorAlSanna, Nen_HK
dc.contributor.authorAlswaid, Aen_HK
dc.contributor.authorMomenah, Ten_HK
dc.contributor.authorKaya, Nen_HK
dc.contributor.authorAlDayel, Fen_HK
dc.contributor.authorBouhoaigah, Ien_HK
dc.contributor.authorSaliem, Men_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorTeebi, ASen_HK
dc.date.accessioned2011-09-07T01:49:06Z-
dc.date.available2011-09-07T01:49:06Z-
dc.date.issued2009en_HK
dc.identifier.citationAtherosclerosis, 2009, v. 203 n. 2, p. 466-471en_HK
dc.identifier.issn0021-9150en_HK
dc.identifier.urihttp://hdl.handle.net/10722/138685-
dc.description.abstractArterial tortuosity syndrome is an autosomal recessive disorder characterized by severe tortuosity of greater and systemic arteries in affected individuals. In addition, patients display connective tissue features which include hyperextensible skin, hypermobility of joints and characteristic facial features. This syndrome is caused by mutation in SLC2A10 gene which encodes for the facilitative glucose transporter, GLUT10. We describe seven patients of two unrelated Saudi Arabian families who display tortuosity, dilatation and stenosis of arteries, pulmonary hypertension and other cardiovascular manifestations. These patients exhibit characteristic connective tissue phenotypes and distinctive facial features. In the single patient of Family 1, sequencing of the candidate gene, SLC2A10, identified a novel missense c.313C > T mutation encoding a p.Arg105Cys substitution in the second extracellular domain of GLUT10. The Arg105 in GLUT10 is highly conserved across species and its replacement with cysteine is predicted to be pathogenic. In the second family, all of the six affected individuals carry recurrent c.243C > G missense mutation encoding a p.Ser81Arg change in the third transmembrane domain of GLUT10. The present study suggests that there exists an intra- and inter-familial phenotypic variability in arterial tortuosity patients carrying identical or different mutations in SLC2A10 gene. While skin hyperextensibility, small joint hypermobility, and facial features are similarly expressed in these patients, there is a range of other phenotypes which include arterial tortuosity and associated complications, and abnormalities of other organs. © 2008 Elsevier Ireland Ltd. All rights reserved.en_HK
dc.languageeng-
dc.publisherElsevier Ireland Ltd. The Journal's web site is located at http://www.elsevier.com/locate/atherosclerosisen_HK
dc.relation.ispartofAtherosclerosisen_HK
dc.subjectArterial tortuosity syndromeen_HK
dc.subjectConnective tissue disorderen_HK
dc.subjectPulmonary hypertensionen_HK
dc.subjectSLC2A10 mutationen_HK
dc.subject.meshArteries - pathology-
dc.subject.meshConnective Tissue Diseases - genetics-
dc.subject.meshGlucose Transport Proteins, Facilitative - genetics-
dc.subject.meshMutation-
dc.subject.meshMutation, Missense-
dc.titleA novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndromeen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0021-9150&volume=203&issue=2&spage=466&epage=471&date=2009&atitle=A+novel+missense+and+a+recurrent+mutation+in+SLC2A10+gene+of+patients+affected+with+arterial+tortuosity+syndrome-
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1016/j.atherosclerosis.2008.07.026en_HK
dc.identifier.pmid18774132-
dc.identifier.scopuseid_2-s2.0-62949151326en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-62949151326&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume203en_HK
dc.identifier.issue2en_HK
dc.identifier.spage466en_HK
dc.identifier.epage471en_HK
dc.identifier.isiWOS:000265464800021-
dc.publisher.placeIrelanden_HK
dc.identifier.scopusauthoridFaiyazUlHaque, M=6603280179en_HK
dc.identifier.scopusauthoridZaidi, SHE=7101670271en_HK
dc.identifier.scopusauthoridAlSanna, N=55395461700en_HK
dc.identifier.scopusauthoridAlswaid, A=6506901649en_HK
dc.identifier.scopusauthoridMomenah, T=55402394700en_HK
dc.identifier.scopusauthoridKaya, N=24398986600en_HK
dc.identifier.scopusauthoridAlDayel, F=6603540669en_HK
dc.identifier.scopusauthoridBouhoaigah, I=24921358700en_HK
dc.identifier.scopusauthoridSaliem, M=34868544200en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridTeebi, AS=7004661664en_HK

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