Current research in the genes and proteins related with Usher syndrome / 中华眼底病杂志

ABSTRACT

Usher syndrome (USH) is an autosomal recessive hereditary disease,characterized as retinitis pigmentosa and deafness.According to the severity of hearing loss,presence or absence of vestibular dysfunction,Usher syndrome is divided into 3 clinical subtypes..USH1,USH2 and USH3.Due to the genetically heterogeneous,it is important and valuable to find out the gene mutations in USH patients,which will be helpful to prenatal diagnosis,early intervention and gene therapy.Till now,the following 13 USH-related chromosomal loci were reported in the literatureUSH1B,USH1C,USH1D (CDH23 gene),USH1F (PCDH15 gene),USH1G (SANS gene),USH1E,USH1H,USH1J and USH1K,USH2A,USH2C,USH2D and USH3 (CLRN1 gene).Ten out of all 13 loci have been located and identified.But more mechanisms should be further investigated,such as the relationship between the locus of gene mutations and clinical symptoms,how the modified protein structures and functions trigger clinical symptoms.