Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK

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dc.contributor.authorReichenberger, E.
dc.contributor.authorTiziani, Valdenize [UNIFESP]
dc.contributor.authorWatanabe, S.
dc.contributor.authorPark, L.
dc.contributor.authorUeki, Y.
dc.contributor.authorSantanna, C.
dc.contributor.authorBaur, S. T.
dc.contributor.authorShiang, R.
dc.contributor.authorGrange, D. K.
dc.contributor.authorBeighton, P.
dc.contributor.authorGardner, J.
dc.contributor.authorHamersma, H.
dc.contributor.authorSellars, S.
dc.contributor.authorRamesar, R.
dc.contributor.authorLidral, A. C.
dc.contributor.authorSommer, A.
dc.contributor.authorAmaral, Cássio Menezes Raposo do
dc.contributor.authorGorlin, R. J.
dc.contributor.authorMulliken, J. B.
dc.contributor.authorOlsen, B. R.
dc.contributor.institutionHarvard Sch Dent Med
dc.contributor.institutionHarvard Univ
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionInst Cirurg Plast Craniofacial SOBRAPAR
dc.contributor.institutionShowa Univ
dc.contributor.institutionVirginia Commonwealth Univ
dc.contributor.institutionSt Louis Univ
dc.contributor.institutionUniv Cape Town
dc.contributor.institutionOhio State Univ
dc.contributor.institutionChildrens Hosp
dc.contributor.institutionUniv Minnesota
dc.date.accessioned2016-01-24T12:31:24Z
dc.date.available2016-01-24T12:31:24Z
dc.date.issued2001-06-01
dc.description.abstractCraniometaphyseal dysplasia (CMD) is a rare skeletal disorder characterized by progressive thickening and increased mineral density of craniofacial bones and abnormally developed metaphyses in long bones. Linkage studies mapped the locus for the autosomal dominant form of CMD to an similar to5-cM interval on chromosome 5p, which is defined by recombinations between loci D5S810 and D5S1954. Mutational analysis of positional candidate genes was performed, and we describe herein three different mutations, in five different families and in isolated cases, in ANK, a multipass transmembrane protein involved in the transport of intracellular pyrophosphate into extracellular matrix. the mutations are two in-frame deletions and one in-frame insertion caused by a splicing defect. All mutations cluster within seven amino acids in one of the six possible cytosolic domains of ANK. These results suggest that the mutated protein has a dominant negative effect on the function of ANK, since reduced levels of pyrophosphate in bone matrix are known to increase mineralization.en
dc.description.affiliationHarvard Sch Dent Med, Forsyth Inst, Harvard Forsyth Dept Oral Biol, Boston, MA 02115 USA
dc.description.affiliationHarvard Univ, Sch Med, Childrens Hosp, Dept Cell Biol, Boston, MA USA
dc.description.affiliationHarvard Univ, Sch Med, Childrens Hosp, Dept Genet, Boston, MA USA
dc.description.affiliationHarvard Univ, Sch Med, Childrens Hosp, Div Plast Surg, Boston, MA USA
dc.description.affiliationUniversidade Federal de São Paulo, EPM, Campinas, SP, Brazil
dc.description.affiliationInst Cirurg Plast Craniofacial SOBRAPAR, Campinas, SP, Brazil
dc.description.affiliationShowa Univ, Sch Med, Dept Plast & Reconstruct Surg, Tokyo 142, Japan
dc.description.affiliationVirginia Commonwealth Univ, Med Coll Virginia, Dept Human Genet, Richmond, VA 23298 USA
dc.description.affiliationSt Louis Univ, Sch Med, Cardinal Glennon Childrens Hosp, Div Med Genet, St Louis, MO 63104 USA
dc.description.affiliationUniv Cape Town, Sch Med, Dept Human Genet, ZA-7925 Cape Town, South Africa
dc.description.affiliationOhio State Univ, Coll Dent, Dept Orthodont, Columbus, OH 43210 USA
dc.description.affiliationChildrens Hosp, Dept Genet, Columbus, OH 43205 USA
dc.description.affiliationUniv Minnesota, Sch Dent, Dept Oral Biol & Genet, Minneapolis, MN 55455 USA
dc.description.affiliationUnifespUniversidade Federal de São Paulo, EPM, SP, Brazil
dc.description.sourceWeb of Science
dc.format.extent1321-1326
dc.identifierhttp://dx.doi.org/10.1086/320612
dc.identifier.citationAmerican Journal of Human Genetics. Chicago: Univ Chicago Press, v. 68, n. 6, p. 1321-1326, 2001.
dc.identifier.doi10.1086/320612
dc.identifier.fileWOS000169094600002.pdf
dc.identifier.issn0002-9297
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/26561
dc.identifier.wosWOS:000169094600002
dc.language.isoeng
dc.publisherUniv Chicago Press
dc.relation.ispartofAmerican Journal of Human Genetics
dc.rightsinfo:eu-repo/semantics/openAccess
dc.titleAutosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANKen
dc.typeinfo:eu-repo/semantics/article
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