UBE2A Deficiency Syndrome is caused by a mutation or deletion in the UBE2A Gene.This Syndrome is characterized by certain "dysmorphic facial features" including: deep set almond shaped eyes, a "carp shaped" mouth, wide nasal bridge and a unibrow. Anamolies with hair, skin and nails are also present.Midline defects also occur including heart, genital and kidney malformations. UBE2A also includes moderate to severe intellectual disability, motor delay, impaired or absent speech and seizures. It is important to know that not all symptoms of UBE2A are present in each child. This is simply a list of common issues found that may or may not impact your child's life. Early Intervention and therapy play a crucial role in any child's life who has special needs and have proven to be of great help to all the children we know with UBE2A.
UBE2A is X-linked so only males are affected. It can be inherited or it can occur spontaneously. If the mother is found to be the carrier, other women (sisters and daughters) could be carriers as well. Mothers who are carriers have a 50% chance of passing UBE2A to their children. Note: Women who are carriers do not have the UBE2a deficiency symptoms because they have two X chromosomes. If one copy in one chromosome does not work, the other copy in the chromosome does the job.
Mutations and micro deletions can also be "de novo". This means that the UBE2A deficiency it appeared randomly in one person. In our case, Abram's UBE2A mutation was a <1% chance of happening and his mutation occurred in his cells in utero.
UBE2A (ubiquitin conjugating enzyme) is a protein that helps to tag other proteins with ubiquitin for degradation. Although researchers know the gene that causes these symptoms, they know very little about how this protein works within the cells or how the deficiency of UBE2a works within the cell.
All published case studies on UBE2A are on the drop-down menu above for specific medical documentation, etc.
Helpful links for those with Rare Disorders
Since UBE2A is so rare, in our experience (and the other families we know), there isn't much information that doctors/geneticists can give us. In our case, we were told that they would be now learning from us so that we can help pave the way for other families. So, for me, I feel the websites below are good for learning more about genetics, how to deal with rare disease in general, and how to partner with other families to advocate and get that "community" that we all need when it comes to our children having a rare genetic disorder.
Many of these websites enable you to join and share your child's medical information in hopes of finding other families who has the same genetic condition. Many people may cringe at that thought but when there are less than 30 reported cases of UBE2a in medical literature, you want to be able to find the families that can help you the most - the ones who are LIVING it. So far, none of the websites below have any matches for UBE2a besides Unique. Maybe someday that will change!
I have also set up a private UBE2A Deficiency Syndrome Parent Connection. If you are a parent of a child with this condition, please e-mail me and we will get you connected to the (14) other families we have found via good 'ol fashion sleuthing!!