Kristal Platt, M.S., C.G.C.
Several genes are known to cause Usher Syndrome I and II. The most common form of Usher syndrome type I is called Usher 1b. The most common form of Usher type II is called Usher 2a. Currently twelve genes causing Usher syndrome types I, II and III have been identified. There are literally hundreds of different gene alterations known to cause Usher Syndrome.
All forms of Usher syndrome are inherited in the same way. Typically no one in previous generations in a family has had Usher syndrome which makes it difficult to appreciate that the condition is genetic and inherited.
It is important to keep in mind that everyone in the population carries many genes that potentially can cause problems if two copies of the same non-working gene are received by a child (one from each parent). It is estimated that one in seventy-five individuals carries one of the Usher syndrome genes. Usher syndrome happens to be one of the conditions inherited as an autosomal recessive condition. The altered gene can remain hidden in a family for generations.
Testing for Usher Syndrome
Gene testing for Usher syndrome is available. Identifying the specific gene alterations confirms the diagnosis of Usher syndrome. Perhaps more importantly, knowing the precise gene alterations may allow individuals to participate in clinical trials now or in the future to identify treatments and cures.