To genetically diagnose the IPO8syndrome, medical doctors usually look for genetic defects in specific genes using targeted analysis of candidate genes. Most of the harmful changes (mutations) found in the IPO8gene cause the gene to stop working completely, so the body breaks down the faulty instructions before they can make a protein. A few other reported mutations slightly change the protein in a way that also makes it stop working. People only get the disease if they inherit two faulty copies of the gene, one from each parent.
IPO8