Missense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus.

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dc.contributor.authorGOwans, L.J.J.
dc.contributor.authorCameron-Christie, S.
dc.contributor.authorSlayton, R.L.
dc.contributor.authorBusch, T.
dc.contributor.authorRomero-Bustillos, M.
dc.contributor.authorEliason, S.
dc.contributor.authorSweat, M.
dc.contributor.authorSobreira, N.
dc.contributor.authorYu, W.
dc.contributor.authorKantaputra, P.N.
dc.contributor.authorWohler, E.
dc.contributor.authorAdeyemo, W.L.
dc.contributor.authorLachke, S.A.
dc.contributor.authorAnand, D.
dc.contributor.authorCampbell, C.
dc.contributor.authorDrummond, B.K.
dc.contributor.authorMarkie, D.M.
dc.contributor.authorvan Vuuren, W.J.
dc.contributor.authorvan Vuuren, L.J.
dc.contributor.authorCasamassimo, P.S.
dc.contributor.authorEttinger, R.
dc.contributor.authorOwais, A.
dc.contributor.authorvan Staden, I.
dc.contributor.authorAmendt, B.A.
dc.contributor.authorAdeyemo, A.A.
dc.contributor.authorMurray, J.C.
dc.contributor.authorRobertson, S.P.
dc.contributor.authorButali, A.
dc.date.accessioned2019-10-30T08:02:08Z
dc.date.available2019-10-30T08:02:08Z
dc.date.issued2019-09-20
dc.descriptionStaff publicationsen_US
dc.description.abstractThe etiology of dental anomalies is multifactorial; and genetic and environmental factors that affect the dental lamina have been implicated. We investigated two families of European ancestry in which males were affected by taurodontism, microdontia and dens invaginatus. In both families, males were related to each other via unaffected females. A linkage analysis was conducted in a New Zealand family, followed by exome sequencing and focused analysis of the X-chromosome. In a US family, exome sequencing of the X-chromosome was followed by Sanger sequencing to conduct segregation analyses. We identified two independent missense variants in KIF4A that segregate in affected males and female carriers. The variant in a New Zealand family (p.Asp371His) predicts the substitution of a residue in the motor domain of the protein while the one in a US family (p.Arg771Lys) predicts the substitution of a residue in the domain that interacts with Protein Regulator of Cytokinesis 1 (PRC1). We demonstrated that the gene is expressed in the developing tooth bud during development, and that the p.Arg771Lys variant influences cell migration in an in vitro assay. These data implicate missense variations in KIF4A in a pathogenic mechanism that causes taurodontism, microdontia and dens invaginatus phenotypes. Copyright © 2019 Gowans, Cameron-Christie, Slayton, Busch, Romero-Bustillos, Eliason, Sweat, Sobreira, Yu, Kantaputra, Wohler, Adeyemo, Lachke, Anand, Campbell, Drummond, Markie, van Vuuren, van Vuuren, Casamassimo, Ettinger, Owais, van Staden, Amendt, Adeyemo, Murray, Robertson and Butali.en_US
dc.identifier.citationGowans LJJ, Cameron-Christie S, Slayton RL, Busch T, Romero-Bustillos M, Eliason S, Sweat M, Sobreira N, Yu W, Kantaputra PN, Wohler E, Adeyemo WL, Lachke SA, Anand D, Campbell C, Drummond BK, Markie DM, van Vuuren WJ, van Vuuren LJ, Casamassimo PS, Ettinger R, Owais A, van Staden I, Amendt BA, Adeyemo AA, Murray JC, Robertson SP, Butali A. Missense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus. Front Genet. 2019 Sep 20;10:800.en_US
dc.identifier.urihttps://ir.unilag.edu.ng/handle/123456789/6604
dc.language.isoenen_US
dc.publisherFrontiers Geneticsen_US
dc.subjectX-linked recessiveen_US
dc.subjectDens invaginatusen_US
dc.subjectExome sequencingen_US
dc.subjectMicrodontiaen_US
dc.subjectTaurodontismen_US
dc.subjectResearch Subject Categories::ODONTOLOGYen_US
dc.titleMissense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus.en_US
dc.typeArticleen_US
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