Part 1 – The Life of a Genetic Mutation: Uner Tan Syndrome

Hi there! I’m Gen the gene, and my host’s name is Charlie. Life as a gene in his body hasn’t always been easy, especially since I’m a part of his cerebellum, a very complex area of the brain. You see, Charlie has been diagnosed with Uner Tan syndrome: an extremely rare disorder only discovered in 2005 by Dr. Uner Tan, a turkish neuroscientist. This condition causes Charlie’s movements to be very shaky and uncoordinated (result of Truncal Ataxia), and significantly limits his language skills: he typically communicates by grunting, and cannot really learn our perception of a language. He also experiences involuntary rhythmic eye movement (for example, they move quickly in one direction, and then slowly in the other). However, what stands out the most about Charlie is his way of getting around. Uner Tan syndrome has caused the ancestral trait of quadrupedal motion (walking on all fours) to genetically reappear in him, making his overall posture and behaviour look like that of an ape. His walking pattern looks very much like the one shown below:

Charlie’s disability seems to be caused by a genetic mutation resulting from his parents’ close relation to one another. It turns out that his father is his mother’s mother’s brother’s son, which suggests that an autosomal recessive transmission may be responsible for the syndrome. Assuming that was the cause, two copies of an abnormal gene were present when Charlie’s condition developed, causing abnormalities to chromosomes 9p24 and 17p. The deformity would have occurred within the VLDLR gene, which controls the neural positioning and alignment in the cerebellum (the part of the brain that contributes to motion and coordination). However, there is no solid evidence that this was the case . It equally could have been caused by a lack of ‘super balance genes’ in his family, or by an abundance of quadruped genes.

Living with Uner Tan syndrome has been very tough for Charlie. His parents never truly accepted the fact that he wasn’t normal. When his mother found out that there was no treatment for his disorder, she desperately tried to force him to walk upright by fastening stones to his legs! She wasn’t able to accept her son for who he is. Nobody understands Charlie… Not even his parents. The worst part is, he can’t express his feelings: everything he says comes out in high pitched sounds and incomprehensible attempts to speak. It doesn’t matter how hard he tries.

Although Charlie’s life can seem very hard at times, he appreciates the fact that he has one, and looks forward to the future. Maybe one day, there will be a treatment for Uner Tan syndrome. If scientists can’t find one, maybe he can focus on meeting someone like him, with the same condition…  I guess he’ll just have to wait and see.

Part 2 – The Making of my Mutation Story: 5 Questions

1) What questions did you need to research in order to create your mutation story?