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When our family was first given the diagnosis that our daughter had a genetic mutation of the ATIC gene, we did what most of us have done in the rare disease community…we went to Google. Very quickly we were disheartened as it seemed that the only resource available outlining our genetic condition was the 2004 paper by Marie et al. Whether the condition was to be called ATIC Deficiency or AICA Ribosiduria did not seem to matter as it seemed that all other websites were merely derivatives of this one source. After running into what seemed like a wall and not finding other members of the rare disease community with our particular mutation, we were encouraged to attend the NORD conference in October of 2019. It was there we met with five other families with ultra rare conditions (below) and we were informed that the first step should be to build a community. As a result, this website was born.
As of January 2025 we are up to 11 known cases! (8 in literature, our daughter, and 2 found through this site!)
We hope that if you, a family member, or close friend is in any way affected by an ATIC mutation as is evidenced by a genetic test that you will complete the contact form and join our ATIC gene mutation family support group on Facebook. If you are a medical professional or researcher interested in the ATIC gene, we also encourage you to complete the contact form so that we can help find the best path forward to help our children and future children with this mutation. |
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Special Thanks to the following Rare Gene community members for their guidance!
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Jeff D'Angelo
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CHAMP1 Gene
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Sheena McGee
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COL4A1/COL4A2 Gene
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Haley Oyler
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SETBP1 Gene
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Bina Shah
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Chromosome 8p
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Jennifer Sills
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CSNK2A1 Gene
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