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GENATLAS PHENOTYPE
last update : 19-12-2009
Symbol FEOM1
Location 12q12
Name congenital fibrosis of the extraocular muscles, 1
Other name(s)
  • ophthalmoplegia, congenital
  • blepharoptosis with absent eye movements
    • Corresponding gene KIF21A
    Other symbol(s) CFEOM1, FEOM
    Main clinical features
  • congenital restrictive ophthalmoplegia, characterized by a non-progressive eye movement disorder with variable expression of bilateral ptosis and restrictive external ophthalmoplegia resulting from a developmental absence of the superior division of the oculomotor nerve, infraducted globe position in primary gaze, and upward gaze palsy in both eyes and apparent spinal canal stenosis in the cervical spine
  • in any cases, associated to Marcus Gunn jaw-winking phenomenon
    • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Gene product
    Name kinesin family member 21A
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     mutation at the C-residue in a CpG dinucleotide
    Remark(s) KIF21A mutations enhanced the accumulation of KANK1 in the membrane fraction, and might cause an abrogation of neuronal developmen through over-regulation of actin polymerization by KANK1 (Kakinuma 2009)