Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 30-11-2017
Symbol NYS1A
Location Xq26.2
Name nystagmus 1A, congenital
Other name(s)
  • nystagmus congenital motor, 1
  • Idiopathic infantile nystagmus
  • Corresponding gene FRMD7
    Other symbol(s) CMN, NYS1, IIN
    Main clinical features
  • motor type, deuteranomaly, periodic alternating nystagmus
  • oculomotor disorder characterized by involuntary oscillations of the eyes that occur in the first 6 months of life
  • associated features may include mildly decreased visual acuity, strabismus, astigmatism, abnormal head posture and occasionally head nodding (PMID: 19892780))
  • Genetic determination sex linked
    Prevalence 24 per 10 000
    Function/system disorder eye
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein  
    Remark(s) . CASK recruits FRMD7 to the plasma membrane to promote neurite outgrowth during development of the oculomotor neural network and defects in this interaction result in nystagmus (PMID: 23406872))
  • abnormal afferent system development is associated with FRMD7 mutations and could be an important etiological factor in the development of nystagmus (PMID: 24688117))