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GENATLAS PHENOTYPE
last update : 05-06-2012
Symbol USH1B
Location 11q13.5
Name Usher syndrome, type IB
Other name(s) myosin, unconventional, family VII, member A
Corresponding gene MYO7A
related resource Genetics hearing impairment
Retinal Information Network
Other symbol(s) MYU7A
Main clinical features
  • characterized by profound congenital neurosensory deafness, constant vestibular dysfunction and retinitis pigmentosa of prepubertal onset leading to blindness (see DFNB2)
  • abnormal ERGs, different degrees of loss of rod-mediated vision in the first decades of life, slower decline of cone vision, central vision ranges from normal to reduced in the first four decades of life and thereafter was severely abnormal (PMID:21873662))
  • Genetic determination autosomal recessive
    Function/system disorder ear
    eye
    Type disease
    Gene product
    Name myosin VIIA (MYO7A)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s) . missense mutations of USH1B significantly inhibited the actin activation of ATPase activity of myosin VIIa, and cause the complete loss of the actin-activated ATPase activity or the reduction of duty ratio of myosin VIIa (PMID: 18700726))