Molecular characteristics

Where DNA is the recipe book for all proteins in a cell, RNA is a copy of one recipe to make a specific protein. Splicing factors help to prepare the RNA so that the correct protein is made, by cutting out the extra parts of the recipe that do not give instructions for making the protein. CWC27 is a gene that produces a splicing factor, so it is required to properly prepare RNA before proteins are made from it. CWC27 mutations can result in the RNA (recipe) being prepared incorrectly. When this happens, it is possible that the resulting protein is not made correctly or at all because the recipe is wrong.
CWC27 mutations can cause a variety of symptoms, including but not limited to vision loss, brachydactyly, and neurological impairment. All published patients have vision loss and most have other symptoms in addition to vision loss. See the Clinical Characteristics for further description of the signs and symptoms associated with CWC27 mutations.