Usher syndrome type 2C

Usher syndrome type 2C is a specific form of Usher syndrome type 2. This condition is marked by mutations in two different genes. In people with this condition, there is a heterozygous frameshift mutation in the GPR98 gene and another heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner, which means a person needs to receive a copy of the mutated gene from each parent to develop the condition. This summary is based on available information and may be updated as more research is done.

Information about symptoms is currently limited for this condition.

Usher syndrome type 2C is caused by genetic mutations. Specifically, there is a heterozygous frameshift mutation in the GPR98 gene along with a heterozygous frameshift mutation in the PDZD7 gene. These genetic changes affect the normal function of these genes. The condition is inherited in an autosomal recessive pattern, which means that two copies of the mutation, one from each parent, are needed for the condition to occur.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and potential future directions is currently limited for this condition.