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Title: | Missense pathogenic variants in KIF4A affect dental morphogenesis resulting in X-linked taurodontism, microdontia and dens-invaginatus |
Authors: | Gowans, Lord J.J. Cameron-Christie, Sophia Slayton, Rebecca L. Busch, Tamara Romero-Bustillos, Miguel et. al |
Keywords: | exome sequencing X-linked recessive microdontia taurodontism dens invaginatus |
Issue Date: | 20-Sep-2019 |
Publisher: | Frontiers in Genetics |
Citation: | Gowans LJJ, Cameron-Christie S, Slayton RL, Busch T, RomeroBustillos 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 and Butali A (2019) Missense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus. Front. Genet. 10:800. doi: 10.3389/fgene.2019.00800 |
Abstract: | The 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. |
Description: | An article published in Frontiers in Genetics and also available at |
URI: | http://hdl.handle.net/123456789/12884 |
Appears in Collections: | College of Science
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