OTUD6B-associated syndrome is a genetic condition caused by having genetic changes, or variants, in both copies of the OTUD6B gene. These variants are usually inherited from the patient’s parents.
A gene is similar to an instruction list that is used to build amino acids, which are building blocks that produce proteins that allow our bodies to function. The protein that is made by the OTUD6B gene is thought to help regulate a process called ubiquitination, which is an important process to help control our proteins and healthy body functioning in many different ways.
The OTUD6B gene is a sequence of letters. A genetic change, or variant, is a change in one or more of these letters. There are many ways that genetic variants can impact how a gene works. Two of the common impacts that are seen in genetic variants causing OTUD6B-associated syndrome are those that cause one amino acid in the protein to be switched to a different amino acid (this is called a missense variant), or those that cause the gene’s instruction list to be cut off early and result in an unfinished protein product (this is called a nonsense variant).
Currently, there are not any clear associations between the specific genetic variants that a patient has in the OTUD6B gene and the severity of their condition. While there are some common features in OTUD6B-associated syndrome that are known to be shared by many patients, two patients with the exact same genetic variants can have some different medical problems and developmental outcomes. It is therefore not possible to fully predict the specific health concerns or developmental differences that a patient might have based on their genetic testing or other lab results. It is possible that missense variants may result in less severe medical and developmental concerns for patients than nonsense variants, but more research is needed to better understand this.
OTUD6B