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Letter to the Editor

Novel variant of KIF11 associated with MCLMR syndrome

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References

  • Malvezzi JV, H Magalhaes I, S Costa S, Otto PA, Rosenberg C, Bertola DR, LM Fernandes W, Vianna-Morgante AM, Krepischi AC. KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability. Hum Genome Var. 2018;5:18010. doi:10.1038/hgv.2018.10.
  • Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore A, Loeys B, Ghalamkarpour A, Onoufriadis A, et al. Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. Am J Hum Genet. 2012;90(2):356–62. doi:10.1016/j.ajhg.2011.12.018.
  • Jones GE, Ostergaard P, Moore AT, Connell FC, Williams D, Quarrell O, Brady AF, Spier I, Hazan F, Moldovan O, et al. Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): Review of phenotype associated with KIF11 mutations. Eur J Hum Genet. 2014;22(7):881–87. doi:10.1038/ejhg.2013.263.
  • Alshamrani AA, Raddadi O, Schatz P, Lenzner S, Neuhaus C, Azzam E, Abdelkader E. Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants. Am J Ophthalmol Case Rep. 2020;19:100780. doi:10.1016/j.ajoc.2020.100780.
  • Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24. doi:10.1038/gim.2015.30.
  • El-Nassan HB. Advances in the discovery of kinesin spindle protein (Eg5) inhibitors as antitumor agents. Eur J Med Chem. 2013;62:614–31. doi:10.1016/j.ejmech.2013.01.031.
  • Li JK, Fei P, Li Y, Huang QJ, Zhang Q, Zhang X, Rao Y-Q, Li J, Zhao P. Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis. Sci Rep. 2016;6:26564. doi:10.1038/srep26564.
  • Robitaille JM, Gillett RM, LeBlanc MA, Gaston D, Nightingale M, Mackley MP, Parkash S, Hathaway J, Thomas A, Ells A, et al. Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations. JAMA Ophthalmol. 2014;132(12):1393–99. doi:10.1001/jamaophthalmol.2014.2814.
  • Gilmour DF. Familial exudative vitreoretinopathy and related retinopathies. Eye (Lond). 2015;29(1):1–14. doi:10.1038/eye.2014.70.
  • Birtel J, Gliem M, Mangold E, Tebbe L, Spier I, Müller PL, Holz FG, Neuhaus C, Wolfrum U, Bolz HJ, et al. Novel insights into the phenotypical spectrum of KIF11-associated retinopathy, including a new form of retinal ciliopathy. Invest Ophthalmol Vis Sci. 2017;58(10):3950–59. doi:10.1167/iovs.17-21679.

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