Faults in three different genes may lead to Usher Syndrome 2. USH2A, ADGRV1 (= USH2C) and WHRN (= USH2D). The USH2D gene can, apart from mutations leading to Usher Syndrome, also have mutations that cause non-syndromic loss of hearing. People suffering from non-syndromic loss of hearing are hard of hearing, but no retinitis pigmentosa (RP) is involved. The USH2A gene can also have mutations that are responsible for non-syndromic RP. These patients do develop retinitis pigmentosa but they do not experience a significant loss of hearing.
More information about these genes, the proteins involved and the various mutations is to be found in ‘Usher Syndrome and DNA diagnostics’.
Which developments, innovations and studies are going on for patients suffering from Usher Syndrome type 2? In this article we will discuss the current developments with respect to therapy.
Various types of mutations within the USH2A gene.Over 500 different mutations have been described …