Molecular genetics of Usher syndrome.
The Usher syndrome, an autosomal recessive deafness and blindness, is genetically and clinically heterogeneous. In the past 4 years, genes mutated in Usher syndrome type Ib and type IIa have been described. The Usher Ib gene encodes the motor protein myosin VIIa and was identified as the human homolog of the mouse shaker-1 gene. The Usher type IIa gene was identified by positional cloning and encodes a protein with homology to extracellular matrix proteins and cell adhesion molecules. This review summarizes the current knowledge regarding both the genetic and molecular aspects of Usher syndrome in the context of recent scientific advances in the areas of sensorineural deafness and retinitis pigmentosa.
Eudy
J D
JD
University of Nebraska Medical Center, Nebraska Health Center, Omaha 68198-5660, USA.
Sumegi
J
J
D004398:Dyneins; D016326:Extracellular Matrix Proteins / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D000081412:Myosin VIIa; D009218:Myosins / Q000235:genetics; D013577:Syndrome
D016326:Extracellular Matrix Proteins; C000631455:MYO7A protein, human; C000631456:Myo7a protein, mouse; D000081412:Myosin VIIa; C112735:USH2A protein, human; C491810:Ush2a protein, mouse; D009218:Myosins; D004398:Dyneins