Usher syndrome type 1C

Usher syndrome type 1C is a form of Usher syndrome type I. This condition is caused by changes (mutations) in the USH1C gene, which is responsible for producing a protein called harmonin. Harmonin plays an important role in the function of cells in the ear and eye. The mutations disrupt the normal production of harmonin, leading to issues that affect hearing and vision over time. This condition is inherited in an autosomal recessive manner. This means that people with Usher syndrome type 1C have inherited two copies of the mutated gene, one from each parent. As a result, symptoms often begin early and are part of a broader set of features seen in Usher syndrome type I.

Information about symptoms is currently limited for this condition.

Usher syndrome type 1C is caused by mutations in the USH1C gene, which affects the production of the protein harmonin. The condition is inherited in an autosomal recessive pattern, meaning that two copies of the mutated gene (one from each parent) are required for the condition to be present.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.