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Article: Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

TitleAutosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus
Authors
Issue Date1995
PublisherCell Press. The Journal's web site is located at http://www.elsevier.com/locate/cell
Citation
Cell, 1995, v. 80 n. 3, p. 431-437 How to Cite?
AbstractIdentifying mutations that cause specific osteochondrodysplasias will provide novel insights into the function of genes that are essential for skeletal morphogenesis. We report here that an autosomal dominant form of Stickler syndrome, characterized by mild spondyloepiphyseal dysplasia, osteoarthritis, and sensorineural hearing loss, but no eye involvement, is caused by a splice donor site mutation resulting in 'in-frame' exon skipping within the COL11A2 gene, encoding the α2(XI) chain of the quantitatively minor fibrillar collagen XI. We also show that an autosomal recessive disorder with similar, but more severe, characteristics is linked to the COL11A2 locus and is caused by a glycine to arginine substitution in α2(XI) collagen. The results suggest that mutations in collagen XI genes are associated with a spectrum of abnormalities in human skeletal development and support the conclusion of others, based on studies of murine chondrodysplasia, that collagen XI is essential for skeletal morphogenesis.
Persistent Identifierhttp://hdl.handle.net/10722/147391
ISSN
2015 Impact Factor: 28.71
2015 SCImago Journal Rankings: 28.188
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorVikkula, Men_HK
dc.contributor.authorMariman, ECMen_HK
dc.contributor.authorLui, VCHen_HK
dc.contributor.authorZhidkova, NIen_HK
dc.contributor.authorTiller, GEen_HK
dc.contributor.authorGoldring, MBen_HK
dc.contributor.authorVan Beersum, SECen_HK
dc.contributor.authorDe Waal Malefijt, MCen_HK
dc.contributor.authorVan den Hoogen, FHJen_HK
dc.contributor.authorRopers, HHen_HK
dc.contributor.authorMayne, Ren_HK
dc.contributor.authorCheah, KSEen_HK
dc.contributor.authorOlsen, BRen_HK
dc.contributor.authorWarman, MLen_HK
dc.contributor.authorBrunner, HGen_HK
dc.date.accessioned2012-05-29T06:03:23Z-
dc.date.available2012-05-29T06:03:23Z-
dc.date.issued1995en_HK
dc.identifier.citationCell, 1995, v. 80 n. 3, p. 431-437en_HK
dc.identifier.issn0092-8674en_HK
dc.identifier.urihttp://hdl.handle.net/10722/147391-
dc.description.abstractIdentifying mutations that cause specific osteochondrodysplasias will provide novel insights into the function of genes that are essential for skeletal morphogenesis. We report here that an autosomal dominant form of Stickler syndrome, characterized by mild spondyloepiphyseal dysplasia, osteoarthritis, and sensorineural hearing loss, but no eye involvement, is caused by a splice donor site mutation resulting in 'in-frame' exon skipping within the COL11A2 gene, encoding the α2(XI) chain of the quantitatively minor fibrillar collagen XI. We also show that an autosomal recessive disorder with similar, but more severe, characteristics is linked to the COL11A2 locus and is caused by a glycine to arginine substitution in α2(XI) collagen. The results suggest that mutations in collagen XI genes are associated with a spectrum of abnormalities in human skeletal development and support the conclusion of others, based on studies of murine chondrodysplasia, that collagen XI is essential for skeletal morphogenesis.en_HK
dc.languageengen_US
dc.publisherCell Press. The Journal's web site is located at http://www.elsevier.com/locate/cellen_HK
dc.relation.ispartofCellen_HK
dc.subject.meshAdulten_US
dc.subject.meshAnimalsen_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshBone Development - Geneticsen_US
dc.subject.meshChromosome Mappingen_US
dc.subject.meshCollagen - Genetics - Physiologyen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenes, Dominant - Geneticsen_US
dc.subject.meshGenes, Recessive - Geneticsen_US
dc.subject.meshGenetic Linkageen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMiceen_US
dc.subject.meshMolecular Sequence Dataen_US
dc.subject.meshMorphogenesisen_US
dc.subject.meshMutation - Geneticsen_US
dc.subject.meshNetherlandsen_US
dc.subject.meshOsteoarthritis - Geneticsen_US
dc.subject.meshOsteochondrodysplasias - Geneticsen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPolymorphism, Geneticen_US
dc.subject.meshSyndromeen_US
dc.titleAutosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locusen_HK
dc.typeArticleen_HK
dc.identifier.emailLui, VCH: vchlui@hkucc.hku.hken_HK
dc.identifier.emailCheah, KSE: hrmbdkc@hku.hken_HK
dc.identifier.authorityLui, VCH=rp00363en_HK
dc.identifier.authorityCheah, KSE=rp00342en_HK
dc.description.naturelink_to_OA_fulltexten_US
dc.identifier.pmid7859284-
dc.identifier.scopuseid_2-s2.0-0028815298en_HK
dc.identifier.hkuros1716-
dc.identifier.volume80en_HK
dc.identifier.issue3en_HK
dc.identifier.spage431en_HK
dc.identifier.epage437en_HK
dc.identifier.isiWOS:A1995QG47000009-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridVikkula, M=7003791742en_HK
dc.identifier.scopusauthoridMariman, ECM=7007019513en_HK
dc.identifier.scopusauthoridLui, VCH=7004231344en_HK
dc.identifier.scopusauthoridZhidkova, NI=6603450005en_HK
dc.identifier.scopusauthoridTiller, GE=7004623084en_HK
dc.identifier.scopusauthoridGoldring, MB=7005248020en_HK
dc.identifier.scopusauthoridVan Beersum, SEC=35447624200en_HK
dc.identifier.scopusauthoridDe Waal Malefijt, MC=7004721279en_HK
dc.identifier.scopusauthoridVan den Hoogen, FHJ=7007012963en_HK
dc.identifier.scopusauthoridRopers, HH=16939739000en_HK
dc.identifier.scopusauthoridMayne, R=7004908004en_HK
dc.identifier.scopusauthoridCheah, KSE=35387746200en_HK
dc.identifier.scopusauthoridOlsen, BR=35403161200en_HK
dc.identifier.scopusauthoridWarman, ML=35402093500en_HK
dc.identifier.scopusauthoridBrunner, HG=7402010860en_HK

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