When Kira was 1 year old we found a mutation in the PURA gene. After some research it was confirmed that this mutation leads to PURA syndrome. Now Kira is almost 3 years and has developmental delays. She can walk on her own and loves doing it. Many skills are more difficult for her, but she is a real fighter. It seems to us that she can do a lot, but just doesn’t hurry.
She can speak one word – “Mama”, but she understands us and interacts emotionally. She also loves to drum, to touch everyone’s hairs and play with brooms for cleaning. She really loves people and attention, as well as to watch how other children communicate and play.
With her hard work and diligence, she shows to the world every day that she deserves to live, love and be happy. We are so proud and full of love to have a chance to be with such a wonderful daughter!
ABOUT PURA SYNDROME
PURA Syndrome is a rare genetic disorder that affects neurodevelopment. It was first described in medical literature in October of 2014 and there are currently only 650 known individuals with PURA worldwide. PURA syndrome arises when there is a genetic alteration affecting one of a person’s two copies of the PURA gene. The defect can be a single letter spelling change within the gene, a small insertion or deletion within the gene, or even a larger deletion removing one whole copy of the gene (and potentially many neighbouring genes as well).
- Where is the PURA gene located? On the long arm of chromosome 5 (at position 5q31.3)
- What does the PURA gene do? It encodes for a protein, pur-alpha, which is expressed in all tissues, including the brain, muscle, heart, and blood.
- pur-alpha has an important role in the normal development of the brain
- The pur-alpha protein’s role in the human cell includes:
- regulatory functions in DNA replication
- transcription and translation of mRNA
Learn more at: https://purasyndrome.org/understanding-pura-syndrome/pura-101/
