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Article: A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13

TitleA family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13
Authors
KeywordsArterial tortuosity
Connective tissue disorder
Ehlers-Danlos syndrome
Homozygosity mapping
Issue Date2005
PublisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
Citation
Clinical Genetics, 2005, v. 67 n. 2, p. 183-188 How to Cite?
AbstractArterial tortuosity associated with hyperextensible skin and hypermobility of joints, features that are characteristics of Ehlers-Danlos syndrome (EDS), has been described in several families. An arterial tortuosity locus has recently been mapped to chromosome 20q13. Here, we report a consanguineous Kurdish family in which an affected child manifested elongation and severe tortuosity of the aorta, carotid, and other arteries. Additional clinical symptoms include loose skin, hypermobile joints, hernias, and facial features that resemble EDS individuals. To examine whether the arterial tortuosity locus was involved in this child, homozygosity analysis was performed using microsatellite markers on 20q13. The affected child was found homozygous, whereas the unaffected parents and three siblings were heterozygous. Additional typing defined the genomic interval to a 37-cm region within which the arterial tortuosity locus is located. Three functional candidate genes (B4GALT5, KCNB1, and PTGIS) were sequenced. No mutations were discovered in the coding regions of these three genes and the promoter regions of B4GALT5 and KCNB1 genes. Moreover, the B4GALT5 mRNA expression was unaltered in patient-derived lymphoblastoid cells. In the PTGIS gene promoter, the affected child was homozygous for eight variable number of tandem repeats, while parents and unaffected siblings carried six repeats. © Blackwell Munksgaard, 2004.
Persistent Identifierhttp://hdl.handle.net/10722/133861
ISSN
2015 Impact Factor: 3.892
2015 SCImago Journal Rankings: 1.630
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorZaidi, SHEen_HK
dc.contributor.authorPeltekova, Ven_HK
dc.contributor.authorMeyer, Sen_HK
dc.contributor.authorLindinger, Aen_HK
dc.contributor.authorPaterson, ADen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorFaiyazUlHaque, Men_HK
dc.contributor.authorTeebi, ASen_HK
dc.date.accessioned2011-06-01T04:29:47Z-
dc.date.available2011-06-01T04:29:47Z-
dc.date.issued2005en_HK
dc.identifier.citationClinical Genetics, 2005, v. 67 n. 2, p. 183-188en_HK
dc.identifier.issn0009-9163en_HK
dc.identifier.urihttp://hdl.handle.net/10722/133861-
dc.description.abstractArterial tortuosity associated with hyperextensible skin and hypermobility of joints, features that are characteristics of Ehlers-Danlos syndrome (EDS), has been described in several families. An arterial tortuosity locus has recently been mapped to chromosome 20q13. Here, we report a consanguineous Kurdish family in which an affected child manifested elongation and severe tortuosity of the aorta, carotid, and other arteries. Additional clinical symptoms include loose skin, hypermobile joints, hernias, and facial features that resemble EDS individuals. To examine whether the arterial tortuosity locus was involved in this child, homozygosity analysis was performed using microsatellite markers on 20q13. The affected child was found homozygous, whereas the unaffected parents and three siblings were heterozygous. Additional typing defined the genomic interval to a 37-cm region within which the arterial tortuosity locus is located. Three functional candidate genes (B4GALT5, KCNB1, and PTGIS) were sequenced. No mutations were discovered in the coding regions of these three genes and the promoter regions of B4GALT5 and KCNB1 genes. Moreover, the B4GALT5 mRNA expression was unaltered in patient-derived lymphoblastoid cells. In the PTGIS gene promoter, the affected child was homozygous for eight variable number of tandem repeats, while parents and unaffected siblings carried six repeats. © Blackwell Munksgaard, 2004.en_HK
dc.languageeng-
dc.publisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGEen_HK
dc.relation.ispartofClinical Geneticsen_HK
dc.rightsThe definitive version is available at www.blackwell-synergy.com-
dc.subjectArterial tortuosityen_HK
dc.subjectConnective tissue disorderen_HK
dc.subjectEhlers-Danlos syndromeen_HK
dc.subjectHomozygosity mappingen_HK
dc.subject.meshAngiography-
dc.subject.meshArteries - abnormalities-
dc.subject.meshChromosomes, Human, Pair 20-
dc.subject.meshEhlers-Danlos Syndrome - genetics-
dc.subject.meshMicrosatellite Repeats-
dc.titleA family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13en_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0009-9163&volume=67&issue=2&spage=183&epage=188&date=2005&atitle=A+family+exhibiting+arterial+tortuosity+syndrome+displays+homozygosity+for+markers+in+the+arterial+tortuosity+locus+at+chromosome+20q13-
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1111/j.1399-0004.2004.00391.xen_HK
dc.identifier.pmid15679832-
dc.identifier.scopuseid_2-s2.0-14244261467en_HK
dc.identifier.hkuros121156-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-14244261467&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume67en_HK
dc.identifier.issue2en_HK
dc.identifier.spage183en_HK
dc.identifier.epage188en_HK
dc.identifier.isiWOS:000226641100011-
dc.publisher.placeDenmarken_HK
dc.identifier.scopusauthoridZaidi, SHE=7101670271en_HK
dc.identifier.scopusauthoridPeltekova, V=6602092322en_HK
dc.identifier.scopusauthoridMeyer, S=7402775326en_HK
dc.identifier.scopusauthoridLindinger, A=7003935218en_HK
dc.identifier.scopusauthoridPaterson, AD=7202360951en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridFaiyazUlHaque, M=6603280179en_HK
dc.identifier.scopusauthoridTeebi, AS=7004661664en_HK
dc.identifier.citeulike257741-

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