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KIF11 gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Protein: kinesin family member 11 (KIF11)
  • KIF11 is a motor protein, which use energy to move and transport molecules within cells and have a diverse range of cellular functions
  • Important for the formation of long microtubules which allow the separation of chromosomes during cell division
  • Improves efficiency of gene expression by bringing together microtubules and ribosomes
  • Involved in transporting molecules to the surface of non-dividing cells
  • KIF11 is thought to be important for the development and maintenance of retinal and lymphatic structures
Clinical phenotype
(OMIM phenotype no.)
  • Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (#152950)
Inheritance
  • Autosomal dominant
Ocular features
  • Variable retinal phenotype ranging from progressive retinal dystrophy to familial exudative vitreoretinopathy (FEVR)
  • Retinal folds extending from temporally from the disc to the anterior periphery
  • Macula dragging
  • Subretinal exudation
  • Retinal neovascularisation
  • Retinal breaks
  • Rhegmatogenous or tractional retinal detachments
  • A scalloped area of chorioretinal atrophy may be noted inferiorly
  • Cataract
Systemic features
  • Microcephaly
  • Intellectual disability
  • Developmental delays
  • Facial dysmorphia (upslanted palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears)
  • Congenital lymphoedema (typically confined to the dorsa of the feet)
  • Sensorineural hearing loss
  • Cardiac anomalies in a minority of cases (congenital thickened pulmonary valve, atrial septal defect and patent foramen ovale)
Key investigations
  • Fluorescein angiography to determine areas of non-perfusion in the peripheral retina
  • Fundus autofluorescence (FAF) and OCT to characterise outer retinal changes
  • Electrophysiology to determine visual potential
  • B-scan USS to identify any posterior segment abnormalities (e.g retinal detachment) if cataract prevents a detailed fundal examination
  • MRI brain and orbit
  • Systemic assessment with a paediatrician and other relevant specialists
  • Dual sensory clinic assessment may be indicated if there is concomitant hearing loss
Molecular diagnosisNext generation sequencing
  • Targeted gene panels (Retinal)
  • Whole exome sequencing
  • Whole genome sequencing
ManagementOcular
  • Laser to all areas of non-perfusion especially in eyes with visual potential
  • Retinal detachments should be treated with an encircling buckle instead of a vitrectomy where possible; vitrectomy may be required for posterior breaks
Systemic
  • Multidisciplinary approach
Therapies under research
  • None at present
Further information

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References

  1.  Marx A, Hoenger A, Mandelkow E. Structures of kinesin motor proteins. In: Cell Motility and the Cytoskeleton. NIH Public Access, pp. 958–966
  2.  Tanenbaum ME, Medema RH. Mechanisms of Centrosome Separation and Bipolar Spindle Assembly. Developmental Cell 2010; 19: 797–806
  3.  Bartoli KM, Jakovljevic J, Woolford JL, et al. Kinesin molecular motor Eg5 functions during polypeptide synthesis. Mol Biol Cell 2011; 22: 3420–3430
  4.  Jones GE, Ostergaard P, Moore AT, 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: 881–887
  5.  Li J-K, Fei P, Li Y, et al. Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis. Sci Rep 2016; 6: 26564
  6.  Vasudevan PC, Garcia-Minaur S, Botella MP, Perez-Aytes A, Shannon NL, Quarrell OW. Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature. Clin Dysmorphol. 2005;14(3):109-116
  7.  Robitaille JM, Gillett RM, LeBlanc MA, et al. Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations. JAMA Ophthalmol. 2014;132(12):1393-1399
  8.  Hu H, Xiao X, Li S, Jia X, Guo X, Zhang Q. KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy. Br J Ophthalmol. 2016;100(2):278-283
  9.  Birtel J, Gliem M, Mangold E, 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):3950-3959

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Updated on January 18, 2021
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