More

So far, one Usher gene is known with respect to Usher Syndrome type 3, being USH3A. The USH3A gene does the coding for the ‘clarin-1’ protein. The USH3A gene is sometimes also called CLRN1, an abbreviation of clarin-1. Usher Syndrome type 3A mainly occurs with people with a Finnish background

More

Mutations in three different genes may lead to Usher Syndrome 2. USH2a, ADGRV1 (= USH2c) and WHRN (= USH2d). Also, mutations in the USH2d gene have been described which only lead to non-syndromic loss of hearing with patients. People suffering from non-syndromic loss of hearing are hard of hearing, but do not

More

Usher Syndrome knows six different genes (USH 1B, 1C, 1D, 1F, 1G and 1J) and many different mutations. Additional information about these genes, the Usher proteins involved and the various mutations in these USH1 genes are to be found in ‘Usher Syndrome and DNA diagnostics’. Which developments, innovations and studies

More

Usher Syndrome type 1 knows six different genes (USH 1B, 1C, 1D, 1F, 1G and 1J) and many different mutations. Additional information about these genes, the proteins involved and the various mutations in these USH1-genes is to be found in ‘Usher Syndrome and DNA diagnostics’. Which developments, studies and clinical

More

The hereditary material of each person is stored in the DNA. The DNA consists of many genes. Each gene contains the code for the production of a protein. Proteins are the building blocks of our bodies. Reading this code for producing a protein is a complicated process. Each gene has