Person
Kibar, Zoha
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Biography and Research Interest
I am a associate professor in the Department of Neurosciences at the University of Montreal. I completed my doctoral and postdoctoral studies in molecular genetics of the skin and nervous system at McGill University. My research focuses on the identification and characterization of genes predisposing to malformations of the central nervous system and its associated skeletal structures. I am particularly interested in the molecular genetics of neural tube defects (NTD), and more recently scoliosis. My research group was the first to implicate the non-canonical Wnt/polarity pathway planar cell (PCP) in the etiology of NTD and to use whole exome sequencing to identify an important role of de novo mutations as well as new defective genes in NTD. I have extensively used the zebrafish model for functional validation of NTD-associated variants identified in PCP genes. I am currently investigating the pathogenesis of scoliosis using CRISPR knockout zebrafish models of PCP genes.
Non-Zebrafish Publications
Kibar Z, Vogan KJ, Groulx N, Justice MJ, Underhill DA, Gros P. 2001. Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is altered in the mouse neural tube mutant Loop-tail. Nature Genet 28: 251-255
Kibar Z, Torban E, McDearmid JR, Reynolds A, Berghout J, Mathieu M,. Kirillova I, De Marco P, Merello E, Hayes JM, Wallingford JB, Drapeau P, Capra V, Gros P. 2007. Mutations in Vangl1 are associated with neural tube defects in humans. N. Engl J Med., 356, 1432-1437 .
A.G. Bassuk, and Z. Kibar. 2009. Genetic basis of neural tube defects. Semin Pediatr Neurol. 16: 101-10
Z. Kibar, S. Salem, C. M. Bosoi, E. Pauwels, P. de Marco, E. Merello, A.G. Bassuk,V. Capra and P. Gros. 2011. Contribution of VANGL2 mutations to isolated neural tube defects. Clin.Genet. 80:76-82
Allache R. , Lachance S., Guyot M.C., De Marco, P. Merello, E., Justice, M.J., Capra, V and Kibar Z. 2014. Novel mutations in Lrp6 orthologues in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non canonical planar cell polarity pathway. Human Molecular Genetics 23(7):1687-99 .
Lemay P., Guyot M.C. , Tremblay. E. , Dionne-Laporte, A., Spiegelman, D., Henrion, E. , Diallo, O., De Marco, P., Merello, E., Massicotte, C., Désilets, V., Michaud, J.L., Rouleau, G.A., Capra, V.,Kibar, Z.. 2015. Loss of function de novo mutations play an important role in severe human neural tube defects. Journal of Medical Genetics. 52(7):493-7.
Wang, M.,De Marco, P. , Merello, E. , Drapeau, P., Capra, V. and Kibar, Z.. 2015.Role of the planar cell polarity gene PROTEIN TYROSINE KINASE 7 in neural tube defects in humans. Birth Defects Res A Clin Mol Teratol. 103(12):1021-7.
Lemay P, De Marco P, Emond A, Spiegelman D, Dionne-Laporte A, Laurent S, Merello E, Accogli A, Rouleau GA, Capra V, Kibar Z. (2017. Rare deleterious variants in GRHL3 are associated with human spina bifida. Hum Mutat. 38(6):716-724.
Kharfallah F, Guyot MC, El Hassan AR, Allache R, Merello E, De Marco P, Di Cristo G, Capra V, Kibar Z. 2017. Scribble1 plays an important role in the pathogenesis of neural tube defects through its mediating effect of Par-3 and Vangl1/2 localization. Hum Mol Genet. 26:2307-232.
El-Hassan AR, Leung V, Kharfallah F, Guyot MC, Allache R, Gros P, Kibar Z. 2018. Identification and characterization of a novel chemically induced allele at the planar cell polarity gene Vangl2. Mamm Genome. 29(3-4):229-244.
Larrivée-Vanier S. , Jean-Louis, M. , Magne, F , Bui, H. , Rouleau, G.A. , Spiegelman, D. , Samuels, M.E. , Kibar, Z. , Van Vliet, G. , Deladoëy, J. 2022. Whole exome sequencing in congenital hypothyroidism due to thyroid dysgenesis. Thyroid. 32(5):486-495 .
Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA; Spina Bifida Sequencing Consortium‡; Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG. 2024. Risk of meningomyelocele mediated by the common 22q11.2 deletion.Science. 384(6695):584-590